Rare variants with known clinical associations.
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https://figshare.com/articles/dataset/_Rare_variants_with_known_clinical_associations_/405581
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资源简介：
Key: Father, mother, son, daughter = F, M, S, D. Abbreviations: AD, autosomal dominant; AR, autosomal recessive. Variants were scored according to disease phenotype features and variant pathogenicty as outlined in Table S4.
创建时间：
2011-09-15
