Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) Due to Missense Mutation
Frontiers in Genetics（2022）
关键词
Bardet-Biedl syndrome type I,BBS1,alternative splicing,whole-exome sequencing (WES),premature termination codon (PTC),nonsense-mediated decay (NMD)
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