Genetic variant classification by predicted protein structure: A case study on IRF6-Reference-Cited by-同舟云学术

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Genetic variant classification by predicted protein structure: A case study on IRF6

Published:2024-12 Issue: Volume:23 Page:892-904
ISSN:2001-0370
Container-title:Computational and Structural Biotechnology Journal
language:en
Short-container-title:Computational and Structural Biotechnology Journal

Author:

Murali Hemma^ORCID,Wang Peng,Liao Eric C.,Wang Kai^ORCID

Funder

National Institutes of Health

Publisher

Elsevier BV

Reference55 articles.

1. Clinical whole-exome sequencing for the diagnosis of mendelian disorders;Yang;N Engl J Med,2013

2. Massively parallel sequencing for rare genetic disorders: potential and pitfalls;McInerney-Leo;Front Endocrinol,2020

3. Clinical massively parallel sequencing;Gao;Clin Chem,2020

4. Unlocking mendelian disease using exome sequencing;Gilissen;Genome Biol,2011

5. Application of next generation sequencing in laboratory medicine;Zhong;Ann Lab Med,2021

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis;Communications Biology;2024-08-23

2. VUStruct: a compute pipeline for high throughput and personalized structural biology;2024-08-07

3. Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease;European Journal of Human Genetics;2024-08-03

4. Functional analysis ofESRP1/2gene variants andCTNND1isoforms in orofacial cleft pathogenesis;2024-07-02

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