Mutations identified in index cases.
收藏Figshare2015-12-02 更新2026-04-29 收录
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MAF = minor allele frequency consulted in European American (EA) individuals in exome sequencing project. N/I = variation not previously identified in general population. Genotype: HT = Heterozygous/HM = Homozygous. Predicted protein changed is named following Human genome variation society recommendations. +Not available in public databases but already described as pathogenic mutation.
创建时间：
2015-12-02
