Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.A722E
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SAMD9

NM_017654.4:p.A722E

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

Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.

Yoshida M et al.

British Journal of Haematology, 2020

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.

Shima H et al.

Journal of Medical Genetics, 2018

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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."