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Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi‐organ autoimmunity by Piers Blombery, Vahid Pazhakh, Adriana S. Albuquerque, Jesmeen Maimaris, Lingge Tu, Brenda Briones Miranda, Florence Evans, Ella R. Thompson, Ben Carpenter, Ian Proctor, Julie A. Curtin, Jonathan Lambert, Siobhan O. Burns, Graham J. Lieschke
Published 2023-05-01
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A novel cause of DKC1‐related bone marrow failure: Partial deletion of the 3′ untranslated region by Jonathan W. Arthur, Hilda A. Pickett, Pasquale M. Barbaro, Tatjana Kilo, Raja S. Vasireddy, Traude H. Beilharz, David R. Powell, Emma L. Hackett, Bruce Bennetts, Julie A. Curtin, Kristi Jones, John Christodoulou, Roger R. Reddel, Juliana Teo, Tracy M. Bryan
Published 2021-05-01
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