(Q51820008)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26246501%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26246501%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

5

1 reference

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21 February 2020

author name string

Tychele N Turner

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26246501%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Christopher Douville

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26246501%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Dewey Kim

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26246501%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Peter D Stenson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26246501%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Aravinda Chakravarti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26246501%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Rachel Karchin

7

1 reference

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21 February 2020

publication date

5 August 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26246501%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

published in

Human Molecular Genetics

1 reference

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21 February 2020

volume

24

1 reference

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21 February 2020

issue

21

1 reference

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21 February 2020

page(s)

5995-6002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26246501%20AND%20SRC:MED&resulttype=core&format=json

Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product

21 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Structural basis and sequence rules for substrate recognition by Tankyrase explain the basis for cherubism disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Human Protein Reference Database and Human Proteinpedia as discovery tools for systems biology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Inferring the functional effects of mutation through clusters of mutations in homologous proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Protein subfamily assignment using the Conserved Domain Database

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype–phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

The p63 gene in EEC and other syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Identifying Mendelian disease genes with the variant effect scoring tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Predicting functional effect of human missense mutations using PolyPhen-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Biopython: freely available Python tools for computational molecular biology and bioinformatics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV309

Analyzing effects of naturally occurring missense mutations

21 January 2018

1 reference

12 December 2020

A protein domain-centric approach for the comparative analysis of human and yeast phenotypically relevant mutations

1 reference

12 December 2020

Plot protein: visualization of mutations

1 reference

12 December 2020

Domain landscapes of somatic mutations in cancer

1 reference

12 December 2020

Achondroplasia is defined by recurrent G380R mutations of FGFR3

1 reference

12 December 2020

Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDV309

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26246501%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26246501%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference