Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.
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DOI: 10.1172/jci.insight.121086
Abstract: Germline SAMD9 and SAMD9L mutations cause a spectrum of multisystem disorders that carry a markedly increased risk of developing myeloid malignancies with somatic monosomy 7. Here, we describe 16 siblings, the majority of which were… read more here.
Keywords: samd9; germline samd9; mutations associated; samd9 samd9l ... See more keywords