Lv5
953 积分 2021-04-29 加入
遗传领域,NGS,生信,儿童肿瘤
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
2天前
已完结
Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease
4天前
已完结
Gene–disease relationships for glomerular phenotypes: expert recommendations from ClinGen
10天前
已完结
IFT43-Related Cranioectodermal Dysplasia Type 3: Clinical and Molecular Insights from the First Reported Turkish Patient
11天前
已完结
Autopalmitoylation of TEAD proteins regulates transcriptional output of the Hippo pathway
12天前
已完结
Polymorphic CGG repeats in gene regulation and disease
13天前
已完结
Directionality of PYD filament growth determined by the transition of NLRP3 nucleation seeds to ASC elongation
14天前
已完结
PtdIns4P on dispersed trans-Golgi network mediates NLRP3 inflammasome activation
14天前
已完结
Calibration and evaluation of machine-learning algorithms for missense variant classification under ACMG/ClinGen recommendations
16天前
已关闭
Palmitoylation alters LDHA activity and pancreatic cancer response to chemotherapy
18天前
已完结