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Q47689771-2A4D62FA-A23F-4480-B4F9-29D15D962A35
Q47689771-2A4D62FA-A23F-4480-B4F9-29D15D962A35
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http://www.wikidata.org/entity/statement/Q47689771-2A4D62FA-A23F-4480-B4F9-29D15D962A35
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
P2860
Q47689771-2A4D62FA-A23F-4480-B4F9-29D15D962A35
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47689771-2A4D62FA-A23F-4480-B4F9-29D15D962A35
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wasDerivedFrom
6ec98348c8b53716d3a8b57655b91bbbfd15c7f2
P2860
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.