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Q27927007-0E578C63-FE8E-42B8-97FA-E9D03770DCB8
Q27927007-0E578C63-FE8E-42B8-97FA-E9D03770DCB8
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Statement
http://www.wikidata.org/entity/statement/Q27927007-0E578C63-FE8E-42B8-97FA-E9D03770DCB8
The Human Phenotype Ontology in 2017
P2860
Q27927007-0E578C63-FE8E-42B8-97FA-E9D03770DCB8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q27927007-0E578C63-FE8E-42B8-97FA-E9D03770DCB8
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1886fced4297a4d23db13b7b71f046ce4135f01e
P2860
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.