The burden of pathogenic variants in clinically actionable genes in a founder population-Reference-Cited by-同舟云学术

The burden of pathogenic variants in clinically actionable genes in a founder population

Published:2021-08-31 Issue:11 Volume:185 Page:3476-3484
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Lynch Megan T.¹²^ORCID,Maloney Kristin A.¹²,Pollin Toni I.¹²,Streeten Elizabeth A.¹²,Xu Huichun¹²,Shuldiner Alan R.³,Van Hout Cristopher V.³,Gonzaga‐Jauregui Claudia³,Mitchell Braxton D.¹²⁴,

Affiliation:

1. Program for Personalized and Genomic Medicine University of Maryland School of Medicine Baltimore Maryland USA

2. Department of Medicine University of Maryland School of Medicine Baltimore Maryland USA

3. Regeneron Genetics Center LLC Tarrytown New York USA

4. Baltimore Veterans Administration Medical Center Geriatrics Research and Education Clinical Center Baltimore Maryland USA

Funder

Regeneron Pharmaceuticals

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62472

Reference39 articles.

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4. Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier

5. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

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