The previously identified pathogenic mutations in the 4 patient study.
收藏Figshare2015-12-02 更新2026-04-29 收录
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The chromosome and position of the mutation is depicted according to the human genome assembly, hg19. Text in bold and italicised highlights high pathogenicity of missense variants. For BLOSUM62, high pathogenicity =
创建时间：
2015-12-02
