Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.Y1274C
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SAMD9

NM_017654.4:p.Y1274C

Associated Papers

Structural Mechanisms of SAMD9 Autoinhibition and Pathogenic Dysregulation.

Mou Z et al.

Biorxiv : the Preprint Server for Biology, 2026

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

Suntharalingham JP et al.

Frontiers in Endocrinology, 2022

Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.

Blombery P et al.

Haematologica, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."