Lv3
280 积分 2023-12-04 加入
RNASEH2C c. 194G >A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3
18小时前
已完结
[Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism]
3个月前
已完结
Germline variants of DNA repair and immune genes in lymphoma from lymphoma‐cancer families
3个月前
已完结
Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants
3个月前
已完结
Multiple effect mechanisms of FLNC in dilated cardiomyopathy based on genetic variants, transcriptomics, and immune infiltration analysis
5个月前
已关闭
Chinese Children With Chronic Intrahepatic Cholestasis and High γ-Glutamyl Transpeptidase
6个月前
已完结
Clinical Impact of Pathogenic and Potentially Pathogenic Rare Variants in Ethnic Minorities with Atrial Fibrillation
6个月前
已关闭
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
8个月前
已完结
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