Exome data of Mevalonate kinase deficiency family
收藏NIAID Data Ecosystem2026-05-25 收录
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资源简介：
The aim of this study was to understand why two siblings carrying both the same homozygous causal mutation for the auto-inflammatory disease hyper IgD syndrome show opposite phenotypes, i.e. the first being asymptomatic, the second presenting all classical characteristics of the disease.
创建时间：
2018-02-17
