A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
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| Description | scientific article |
| Author/s |
author: Augusto Rendon Ernest Turro Willem H. Ouwehand Kathleen Freson Sylvia Richardson John R Bradley Kathleen Stirrups Sarah K. Westbury William Astle Wendy Erber Sandrine Marlin Alan T Nurden Sofia Papadia Myrto Kostadima Sol Schulman |
| Publication date | February 24, 2016 |
| Language | English |
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| Missing/wrong data? | Edit Wikidata item |