Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

被引：1
|
作者：
Battistini, Stefania [1 ]
Ricci, Claudia [1 ]
机构：
[1] Univ Siena, Dept Med Surg & Neurol Sci, Viale Bracci 2, I-53100 Siena, Italy
来源：
HUMAN MUTATION | 2020年 / 41卷 / 05期
关键词：
cerebral cavernous malformations; functional studies; in silico analysis; KRIT1; gene; splicing variants; variant interpretation; MESSENGER-RNA; PREDICTION;
D O I：
10.1002/humu.24000
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1069 / 1071
页数：3
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