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Megalencephaly cutis marmorata telangiectatica congenita

Disease Term Disease ID Gene Symbol References

Megalencephaly cutis marmorata telangiectatica congenita C1865285
PIK3CA 22729224, 19011570, 26593112, 27030595, 22729223
PIK3R2 28086757, 22729224, 26520804, 24497998
AKT3 22729224, 25416470, 25523067, 28086757, 23745724

 

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