Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene.
作者信息
Battistini Stefania, Ricci Claudia
机构信息
Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
出版信息
Hum Mutat. 2020 May;41(5):1069-1071. doi: 10.1002/humu.24000.
PMID:32285596
Abstract
摘要
Zotero 插件