Lv31
291 积分 2022-03-10 加入
Framework for combined functional and computational assessment of variant pathogenicity in the sodium leak channel NALCN
8小时前
已完结
Multimodal KCNQ1 Variant-Effect Maps Define Ion Channel Mechanisms and Disease Risk
8小时前
已完结
Novel biallelic ADCY10 variants cause asthenozoospermia with excessive residual cytoplasm and hydronephrosis in humans
11天前
已完结
Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density
11天前
已完结
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
1个月前
已完结
Efficacy and safety of ziresovir in hospitalised infants aged 6 months or younger with respiratory syncytial virus infection in China: findings from a phase 3 randomised trial with 24-month follow-up
1个月前
已完结
A protocol for the generation of xeno-free, cGMP-compliant patient-specific iPSCs from skin biopsy
1个月前
已完结
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
1个月前
已完结
O28: GREGoR: Accelerating genomics for rare diseases
1个月前
已完结
DNA methylation restricts coordinated germline and neural fates in embryonic stem cell differentiation
2个月前
已完结
皖公网安备34019202002308
