StopKB
收藏国家生物信息中心2025-10-11 更新2025-08-23 收录
下载链接：
https://lbgi.fr/stopkb
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资源简介：
StopKB aggregates 637,317 unique human nonsense variants across 18,022 genes and links them to 3,206 diseases and 7,765 HPO phenotypes, classifying ~32 % as NMD-insensitive to prioritise candidates for read-through therapies. An interactive web interface supports database-, gene-, disease- and phenotype-wise queries with exportable results.
提供机构：
University of Strasbourg
创建时间：
2025-06-30
