Lv2
170 积分 2026-01-27 加入
A systematic survey of loss-of-function variants in human protein-coding genes
1小时前
待确认
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study
2个月前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
3个月前
已完结
Establishment and characterization of a novel cell line ICH-BCPALL-3 from B cell precursor acute lymphoblastic leukemia with TCF3::HLF
3个月前
已完结
In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis
3个月前
已完结
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
3个月前
已完结
CARD9 mutations in patients with fungal infections: An update from the last 5 years
3个月前
已完结
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment
4个月前
已完结
ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease
4个月前
已完结
Expanding the spectrum of genetic causes of DNA-specific exonuclease TREX1 variants in thrombotic microangiopathy
4个月前
已完结