先证者
错义突变
疾病
遗传学
基因组
生物
基因
医学
表型
内科学
突变
作者
Sarah L. Stenton,Vikas Pejaver,Timothy Bergquist,Leslie G. Biesecker,Alicia B. Byrne,Emily Nadeau,Marc S. Greenblatt,Steven M. Harrison,Sean V. Tavtigian,Predrag Radivojac,Steven E. Brenner,Anne O’Donnell-Luria
出处
期刊:Cold Spring Harbor Laboratory - medRxiv
日期:2024-03-07
标识
DOI:10.1101/2024.03.05.24303807
摘要
To investigate the number of rare missense variants observed in human genome sequences by ACMG/AMP PP3/BP4 evidence strength, following the calibrated PP3/BP4 computational recommendations.
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