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0 积分 2023-08-22 加入
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database
7小时前
已完结
Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants
9小时前
求助中
Evaluating ClinGen variant curation expert panels' application of PVS1 code
10小时前
求助中
Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants
12小时前
已完结
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
1个月前
已完结
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
1个月前
已完结
5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity
3个月前
已完结
NCAD v1.0: a database for non-coding variant annotation and interpretation
3个月前
已完结
遗传病基因变异全外显子组测序技术规范化应用专家共识
3个月前
已完结
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
4个月前
已完结
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