Lv11
60 积分 2025-05-22 加入
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome
2小时前
已完结
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2
3个月前
已完结
eEF1A2 knockdown impairs neuronal proliferation and inhibits neurite outgrowth of differentiating neurons
3个月前
已关闭
NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity
3个月前
已完结
Kaptin Functions as a Barbed-End Binding Protein to Control Actin Filament Dynamics
3个月前
已完结
Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5
4个月前
已完结
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
7个月前
已完结
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
8个月前
已完结
HCSeeker: A classification tool for human genetic variant hot and cold spots designed for PM1 and benign criteria in the ACMG-AMP guideline
8个月前
已完结
Fever Triggered Recurrent Acute Liver Failure due to RINT1 Deficiency
8个月前
已完结
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