Lv51
1568 积分 2023-08-18 加入
Disease-associated mutations affect GPR56 protein trafficking and cell surface expression
37分钟前
求助中
Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing
5小时前
待确认
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
15天前
已完结
Potential pathogenic mechanism of type 1 X-linked lymphoproliferative syndrome caused by a mutation of SH2D1A gene in an infant: A case report
20天前
已完结
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression
1个月前
已完结
A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia
2个月前
已关闭
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges
2个月前
已完结
[Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing]
2个月前
已完结
Genotype–phenotype associations in SCN1A -related epilepsies
2个月前
已完结
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