Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions-Reference-Cited by-同舟云学术

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Published:2020-11 Issue:11 Volume:22 Page:1768-1776
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Gambin Tomasz,Liu Qian,Karolak Justyna A.,Grochowski Christopher M.,Xie Nina G.,Wu Lucia R.,Yan Yan Helen,Cao Ye,Coban Akdemir Zeynep H.,Wilson Theresa A.,Jhangiani Shalini N.,Chen Ed,Eng Christine M.,Muzny Donna,Posey Jennifer E.,Yang Yaping,Zhang David Y.,Shaw Chad,Liu Pengfei,Lupski James R.,Stankiewicz Paweł^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-020-0897-z.pdf

Reference39 articles.

1. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females;Bartnik;Genet Med,2011

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