Annotation of the 59 MC4R mutations.
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Functional evidence refers to existing literature that demonstrated that the mutation leads to lower expression, impaired signaling or loss of function. "Ambiguous" refers to mutations that had conflicting reports of either supporting or refuting downstream effects or for which the loss of function effects of the mutation were not clear. MC4R, melanocortin 4 receptor gene. (XLSX)
创建时间：
2020-07-21
