Summary of reported patients harboring sequence variations and deletions affecting MAMLD1 gene a.
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a the variants were named according to NM_005491.4.N: normal sequence; NA: not analyzed; ?/-: unknown; GD: gonadal dysgenesis; GOF: gain of function.Summary of reported patients harboring sequence variations and deletions affecting MAMLD1 gene a.
创建时间：
2015-12-03
