Possible pathogenic variants found in this study.
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Computer analysis to predict the effect of missense variants on MYO7A 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: not applicable.
创建时间：
2015-12-02
