MAPVar
收藏国家生物信息中心2025-10-11 更新2025-08-09 收录
下载链接:
https://clingen.igib.res.in/MAPVar
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资源简介:
MAPVar (MEN-Associated Pathogenic Variants) is a database of genetic variants linked with Multiple Endocrine Neoplasia, encompassing three genes: RET, MEN1 and CDKN1B. It encompasses 1286 pathogenic variants as well as variants of unknown or uncertain significance (VUS) curated from several sources, and reclassified according to ACMG & AMP (American College of Medical Genetics and the Association of Molecular Pathologists) guidelines.
提供机构:
CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB)
创建时间:
2025-06-28



