Associated Papers
Structural Mechanisms of SAMD9 Autoinhibition and Pathogenic Dysregulation.
Mou Z et al.
Biorxiv : the Preprint Server for Biology, 2026
41676458 (PubMed )
Supplement: media-1.pdf
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
Sahoo SS et al.
Nature Medicine, 2021
Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene.
Baquedano-Lobera I et al.
Clinical Genetics, 2021
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