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中文46,xy Sex Reversal 6 (SRXY6)
Alias:
Srxy6
46,xy Gonadal Dysgenesis, Partial or Complete, Map3k1-Related
46,xy Sex Reversal, Partial or Complete, Map3k1-Related
46,xy Gonadal Dysgenesis Partial or Complete Map3k1-Related
46,xy Sex Reversal Partial or Complete Map3k1-Related
46,xy Sex Reversal, Type 6
46xy Sex Reversal 6
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46,xy性别反转6，也称为srxy6，与脊髓小脑性共济失调14和四肢瘫痪有关。与46,xy性别反转6有关的重要基因是MAP3K1（活化蛋白激酶激酶激酶1），其相关通路/超通路包括脂肪酰基-CoA生物合成。附属组织包括睾丸和子宫，相关表型包括多毛症和性腺发育不全。
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