Summary of mutations in seven disease-causing genes from seven genetic diseases.
收藏Figshare2015-12-02 更新2026-04-29 收录
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aInheritance manner: AR (autosomal recessive), AD (autosomal dominant) and XR (X-linked recessive).bSIFT classification: N.P (not predicted) and D (Damaging). Only the two novel variants were predicted with SIFT. SPG11 reference transcript NM_025137; STS reference transcript NM_000351; FBN1 reference transcript NM_000138; ATP7B reference transcript NM_000053; HBB reference transcript NM_000518; DMD reference transcript NM_000109.
创建时间：
2015-12-02
