Gene-RD-Provenance_V1
收藏NIAID Data Ecosystem2026-03-10 收录
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资源简介：
In this dataset we provide monogenic, rare diseases (OMIM identifier) with a known genetic cause (HGNC, Ensembl) supplemented with manually extracted provenance of both the disease and the discovery of the underlying genetic cause of the disease (PMID).
创建时间：
2019-02-14
