遇见数据集

EGAS00001000775-sc-2023-03-15T11:18:45Z - samples

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NIAID Data Ecosystem2026-05-01 收录
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资源简介:

Candidate diagnostic variants reported into DECIPHER by 4 April 2022, annotated with clinical and automated pathogenicity assertions (see DOI: 10.1056/NEJMoa2209046). Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland, Wright et al, NEJM 2023.EGA dataset EGAD00001010137

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2023-05-15
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