Summary of the diagnosed families in this study.
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https://figshare.com/articles/dataset/_Summary_of_the_diagnosed_families_in_this_study_/1068290
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资源简介：
For each family, the phenotype, inheritance model, the altered gene, the identified mutation, the homozygosity/heterozygosity state, and the reference of previously described mutations are indicated. [a] This study, bMutations previously identified by APEX cUnknown pathogenicity, n.i Not identified.
创建时间：
2014-02-07
