A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy

被引：0
|
作者：
Del Gobbo, Giulia F. [1 ]
Wang, Xueqi [1 ]
MacDonald, Stella K. [2 ]
Liang, Yijing [3 ]
McMillan, Hugh J. [1 ,4 ]
Lemire, Gabrielle [1 ]
Boycott, Kym M. [1 ,2 ]
机构：
[1] Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada
[2] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada
[3] Hosp Sick Children, Ctr Computat Med, Toronto, ON, Canada
[4] Childrens Hosp Eastern Ontario, Dept Neurol, Ottawa, ON, Canada
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2025年 / 197卷 / 04期
基金：
加拿大健康研究院;
关键词：
BICD2; neuromuscular disorder; RNA sequencing; spinal muscular atrophy lower extremity dominant 2A; SPECTRUM;
D O I：
10.1002/ajmg.a.63944
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页数：6
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