A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
scientific article
Author/s
author: Ernest Turro, Sarah K. Westbury, William Astle, Myrto Kostadima, Sofia Papadia, Sol Schulman, Wendy Erber, Augusto Rendon, John R Bradley, Sylvia Richardson, Kathleen Freson, Willem H. Ouwehand, Kathleen Stirrups, Sandrine Marlin, Alan T Nurden
Work details
Copyright status
Copyright status information is not available for this work. The copyright status depends on the jurisdiction, the author's date of death and the date the work was created or published.
To learn more about copyright terms in different countries, visit the countries and terms page.