Lv21
166 积分 2024-07-26 加入
Splicing variants in DEPDC5 ‐related epilepsies: From functional characterization to correction
1小时前
待确认
Tools and tactics for studying alternative splicing
6个月前
已完结
The splicing code
10个月前
已完结
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome
1年前
已关闭
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype
1年前
已完结
DOORS syndrome and a recurrent truncating ATP6V1B2 variant
1年前
已关闭
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