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Q46337250-C4CB6F89-703C-4946-8D9D-5BC423BC9C39
Q46337250-C4CB6F89-703C-4946-8D9D-5BC423BC9C39
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Statement
http://www.wikidata.org/entity/statement/Q46337250-C4CB6F89-703C-4946-8D9D-5BC423BC9C39
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
P2860
Q46337250-C4CB6F89-703C-4946-8D9D-5BC423BC9C39
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46337250-C4CB6F89-703C-4946-8D9D-5BC423BC9C39
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wasDerivedFrom
cbc439ff997f5674684f7e4fd3a3f00840c51048
P2860
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly