遇见数据集

Variants with uncertain pathogenicity found in this study.

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Figshare2015-12-02 更新2026-04-29 收录
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*not confirmed by segregation study.**one normal hearing subject with homozygotes.***Computer analysis to predict the effect of missense variants on CDH23 protein function was performed with Sorting Intolerant from Tolerant (SIFT; http://sift.jcvi.org/), and Polymorphism Phenotyping (PolyPhen2;http://genetics.bwh.harvard.edu/pph2/).N/A: TaqMan probe not available.

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2015-12-02
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