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Q45063174-99F40BFB-34F1-401B-ADB7-C55A4A7DB8C9
Q45063174-99F40BFB-34F1-401B-ADB7-C55A4A7DB8C9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q45063174-99F40BFB-34F1-401B-ADB7-C55A4A7DB8C9
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.
P2860
Q45063174-99F40BFB-34F1-401B-ADB7-C55A4A7DB8C9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q45063174-99F40BFB-34F1-401B-ADB7-C55A4A7DB8C9
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Statement
wasDerivedFrom
f8d0142f40cfc502ac008c5c506cdf84c2ea0427
P2860
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.