Identification of a Splicing Mutation in ITPR1 Via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family
The Cerebellum（2018）
关键词
Inositol 1,4,5-triphosphate receptor type 1 (ITPR1),Nonprogressive cerebellar ataxia (NPCA),Spinocerebellar ataxia type 15/29 (SCA15/29),Whole-exome sequencing (WES)
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