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Q30668593-499ABB05-E893-4CF9-AF51-CA8432944200
Q30668593-499ABB05-E893-4CF9-AF51-CA8432944200
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30668593-499ABB05-E893-4CF9-AF51-CA8432944200
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
P2093
Q30668593-499ABB05-E893-4CF9-AF51-CA8432944200
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30668593-499ABB05-E893-4CF9-AF51-CA8432944200
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
08f8dd2cf850cd6ea365d7cfb0d062d51af87be9
P1545
26
http://www.w3.org/2001/XMLSchema#string
P2093
Carolyn M Millar
http://www.w3.org/2001/XMLSchema#string