Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.I1567M
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SAMD9

NM_017654.4:p.I1567M

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

Inducible pluripotent stem cell models to study bone marrow failure and MDS predisposition syndromes.

Sahoo SS et al.

Experimental Hematology, 2025

Generation of heterozygous SAMD9 CRISPR/Cas9-edited iPSC line (ESi086-A-3), carrying p.I1567M mutation.

Pera J et al.

Stem Cell Research, 2022

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.

Sahoo SS et al.

Nature Medicine, 2021

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