Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes
Author:
Funder
NIH
V Foundation
Burroughs Wellcome Fund
American Cancer Society
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://insight.jci.org/articles/view/121086/files/pdf
Reference35 articles.
1. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7
2. Aneuploidy as a mechanism for stress-induced liver adaptation
3. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans
4. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L
5. Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms
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