Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.G1048R
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SAMD9

NM_017654.4:p.G1048R

Associated Papers

Structural Mechanisms of SAMD9 Autoinhibition and Pathogenic Dysregulation.

Mou Z et al.

Biorxiv : the Preprint Server for Biology, 2026

Normal Immune Function in a Newborn With Early Identification of a SAMD9 Mutation Presenting With Growth Restriction, Thrombocytopenia, and Primary Adrenal Insufficiency.

Gao KM et al.

Clinical Case Reports, 2025

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