(Q34677873)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25566323%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25566323%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25566323%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Luis Sanchez Pulido

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25566323%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

author name string

Luis Sanchez-Pulido

series ordinal

1

1 reference

PubMed publication ID

25566323

3 August 2017

publication date

11 December 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25566323%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

published in

Frontiers in Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25566323%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25566323%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

page(s)

439

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25566323%20AND%20SRC:MED&resulttype=core&format=json

TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease

27 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Exome sequencing and complex disease: practical aspects of rare variant association studies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Cholesterol epoxide hydrolase and cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Exome sequencing and the genetic basis of complex traits

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

The Pfam protein families database

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Exome sequencing as a tool for Mendelian disease gene discovery

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

HMMER web server: interactive sequence similarity searching

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

DUFs: families in search of function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Identification and pharmacological characterization of cholesterol-5,6-epoxide hydrolase as a target for tamoxifen and AEBS ligands

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Identification of cholesterol-regulating genes by targeted RNAi screening

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Domain-based and family-specific sequence identity thresholds increase the levels of reliable protein function transfer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Drug target identification using side-effect similarity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Identification of essential amino acid residues in a sterol 8,7-isomerase from Zea mays reveals functional homology and diversity with the isomerases of animal and fungal origin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Coordinate up-regulation of TMEM97 and cholesterol biosynthesis genes in normal ovarian surface epithelial cells treated with progesterone: implications for pathogenesis of ovarian cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Predicting protein function from sequence and structure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

What makes species unique? The contribution of proteins with obscure features

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

ORFeome cloning and global analysis of protein localization in the fission yeast Schizosaccharomyces pombe

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

The Universal Protein Resource (UniProt): an expanding universe of protein information

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

The HHpred interactive server for protein homology detection and structure prediction

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Scoredist: a simple and robust protein sequence distance estimator

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

'Conserved hypothetical' proteins: prioritization of targets for experimental study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Enzymatic mechanisms for catalysis of enolization: ketosteroid isomerase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Expression analysis of MAC30 in human pancreatic cancer and tumors of the gastrointestinal tract

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Global analysis of protein localization in budding yeast

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Pharmacophylogenomics: genes, evolution and drug targets

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Sequence variation and disease in the wake of the draft human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Cholesterol biosynthesis from lanosterol: molecular cloning, chromosomal localization, functional expression and liver-specific gene regulation of rat sterol delta8-isomerase, a cholesterogenic enzyme with multiple functions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

T-Coffee: A novel method for fast and accurate multiple sequence alignment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Genetic defects in postsqualene cholesterol biosynthesis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Cirrhosis with steatohepatitis after adjuvant tamoxifen

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Pharmacological analysis of sterol delta8-delta7 isomerase proteins with [3H]ifenprodil

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

The mysteries of sigma receptors: new family members reveal a role in cholesterol synthesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

The reversibility of the delta8-cholestenol-delta7-cholestenol isomerase reaction in cholesterol biosynthesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

The stereochemistry of hydrogen elimination from C-7 in cholesterol and ergosterol biosynthesis

7 July 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Catalysing new reactions during evolution: economy of residues and mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Long-term benefits of 5 years of tamoxifen: 10-year follow-up of a large randomized trial in women at least 50 years of age with early breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Overexpression of MAC30 is associated with poor clinical outcome in human non-small-cell lung cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Conradi-Hünermann-Happle syndrome with cervical stenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Tamoxifen: a personal retrospective.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Molecular characterization of the microsomal tamoxifen binding site

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Purification, characterization and catalytic properties of human sterol 8-isomerase

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

A common ancestry for BAP1 and Uch37 regulators

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Internal gene duplication in the evolution of prokaryotic transmembrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Human Gene Mutation Database (HGMD): 2003 update

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Expression of MAC30 protein is related to survival and clinicopathological variables in breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Elevated expression of MAC30 predicts lymph node metastasis and unfavorable prognosis in patients with epithelial ovarian cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Significance of mRNA and protein expression of MAC30 in progression of colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

NAIL--Network Analysis Interface for Linking HMMER results

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Expression of MAC30 in Rectal Cancers with or without Preoperative Radiotherapy

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFGENE.2014.00439

Expression of MAC30 protein is related to survival and biological variables in primary and metastatic colorectal cancers

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263179

Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2)

26 October 2018

1 reference

12 December 2020

Down-regulated MAC30 expression inhibits proliferation and mobility of human gastric cancer cells

1 reference

12 December 2020

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata

1 reference

12 December 2020

A theoretical model of the catalytic mechanism of the Delta5-3-ketosteroid isomerase reaction

1 reference

12 December 2020

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation

1 reference

12 December 2020

X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

1 reference

12 December 2020

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2

1 reference

12 December 2020

Genetic variation in transmembrane 6 superfamily member 2 and the risk of nonalcoholic fatty liver disease and histological disease severity

1 reference

12 December 2020

Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C)

1 reference

12 December 2020

[Conradi-Hünermann-Happle syndrome with unilateral distribution]

1 reference

12 December 2020

Cancer. Cholesterol and cancer, in the balance

1 reference

12 December 2020

Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation

1 reference

12 December 2020

Evidence of Postzygotic Mosaicism in a Transmitted Form of Conradi-H ünermann-Happle Syndrome Associated With a Novel EBP Mutation

1 reference

12 December 2020

Overexpression of MAC30 in the cytoplasm of oral squamous cell carcinoma predicts nodal metastasis and poor differentiation

1 reference

12 December 2020

The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism

1 reference

12 December 2020

Identifiers

DOI

10.3389/FGENE.2014.00439

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25566323%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25566323%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

PubMed publication ID

25566323

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25566323%20AND%20SRC:MED&resulttype=core&format=json