Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance-Reference-Cited by-同舟云学术

Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance

Published:2020-06-02 Issue:8 Volume:41 Page:1407-1424
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Thai Monica H. N.¹²,Gardner Alison¹,Redpath Laura¹²,Mattiske Tessa¹²,Dearsley Oliver¹,Shaw Marie¹,Vulto‐van Silfhout Anneke T.³^ORCID,Pfundt Rolph³,Dixon Joanne⁴,McGaughran Julie⁵,Pérez‐Jurado Luis A.²⁶⁷⁸,Gécz Jozef¹²⁶^ORCID,Shoubridge Cheryl¹²^ORCID

Affiliation:

1. Adelaide Medical SchoolUniversity of Adelaide Adelaide South Australia Australia

2. Robinson Research InstituteUniversity of Adelaide Adelaide South Australia Australia

3. Department of Human GeneticsRadboud University Medical Center Nijmegen The Netherlands

4. Genetic Health Service NZ‐South Island HubChristchurch Hospital Christchurch New Zealand

5. Genetic Health Queensland, MNHHS, Brisbane and School of MedicineThe University of Queensland Brisbane Queensland Australia

6. South Australian Health and Medical Research Institute Adelaide South Australia Australia

7. South Australian Clinical Genetics ServiceSA Pathology Adelaide South Australia Australia

8. Hospital del Mar Research InstituteNetwork Research Centre for Rare Diseases and Universitat Pompeu Fabra Barcelona Spain

Funder

National Health and Medical Research Council

Australian Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24034

Reference47 articles.

1. Identifying Mendelian disease genes with the Variant Effect Scoring Tool

2. wANNOVAR: annotating genetic variants for personal genomes via the web

3. Homeodomain revisited: a lesson from disease-causing mutations

4. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

5. The simultaneous loss ofArxandPax4genes promotes a somatostatin-producing cell fate specification at the expense of the α-and β-cell lineages in the mouse endocrine pancreas

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