Lv4
630 积分 2024-01-08 加入
Trip12 is an E3 ubiquitin ligase for USP7/HAUSP involved in the DNA damage response
1个月前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
6个月前
已完结
Variation in GABA‐A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16)
6个月前
已完结
The de novo GABRA4 p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits
6个月前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
6个月前
已关闭
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing
7个月前
已完结
Mutations in ASH1L confer susceptibility to Tourette syndrome
7个月前
已完结
Mutations in ASH1L confer susceptibility to Tourette syndrome
7个月前
已完结