(Q38213497)

31 August 2017

4 references

19 September 2019

21 December 2019

10 November 2020

29 July 2022

Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation (English)

1 reference

biomedical investigative technique

31 August 2017

1 reference

19 September 2019

1 reference

21 December 2019

1 reference

10 November 2020

Lionel Breuza

6

0 references

Anne Estreicher

Anne Estreicher

2

0 references

Nicole Redaschi

Nicole Redaschi

9

0 references

Sylvain Poux

Sylvain Poux

8

0 references

Alan J Bridge

Alan Bridge

7

0 references

Jerven Bolleman

Jerven Bolleman

4

0 references

Sebastien Gehant

Sébastien Géhant

5

0 references

Lydie Bougueleret

10

Lydie Bougueleret

1 reference

31 August 2017

11

Ioannis Xenarios

1 reference

31 August 2017

Maria Livia Famiglietti

1

Maria Livia Famiglietti

1 reference

31 August 2017

12

UniProt Consortium

1 reference

31 August 2017

Arnaud Gos

3

1 reference

31 August 2017

24 June 2014

1 reference

31 August 2017

1 August 2014

4 references

19 September 2019

21 December 2019

10 November 2020

29 July 2022

5 references

31 August 2017

19 September 2019

21 December 2019

10 November 2020

29 July 2022

35

1 reference

31 August 2017

8

1 reference

31 August 2017

927-935

1 reference

Creative Commons Attribution 3.0 Unported

31 August 2017

4 references

19 September 2019

21 December 2019

10 November 2020

Expert curation in UniProtKB: a case study on dealing with conflicting and erroneous data

29 July 2022

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Variation Ontology for annotation of variation effects and mechanisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Expanding horizons: ciliary proteins reach beyond cilia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Human diseases through the lens of network biology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

An integrated map of genetic variation from 1,092 human genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Ciliopathies: an expanding disease spectrum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Network medicine: a network-based approach to human disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

A method and server for predicting damaging missense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Next-generation DNA sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Deleterious SNP prediction: be mindful of your training data!

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Proteins and domains vary in their tolerance of non-synonymous single nucleotide polymorphisms (nsSNPs).

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107114

Performance of mutation pathogenicity prediction methods on missense variants

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22594

21 January 2018

Identifiers

DOI

10.1002/HUMU.22594

1 reference

31 August 2017

1 reference

31 August 2017

PubMed publication ID

24848695

1 reference