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Q30668593-3CFE5943-344B-4162-9D1F-1AC43116E33E
Q30668593-3CFE5943-344B-4162-9D1F-1AC43116E33E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30668593-3CFE5943-344B-4162-9D1F-1AC43116E33E
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
P50
Q30668593-3CFE5943-344B-4162-9D1F-1AC43116E33E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30668593-3CFE5943-344B-4162-9D1F-1AC43116E33E
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
08f8dd2cf850cd6ea365d7cfb0d062d51af87be9
P1545
44
http://www.w3.org/2001/XMLSchema#string
P50
Kathleen Freson