Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.T778I
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SAMD9

NM_017654.4:p.T778I

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

Somatic mosaicism in inherited bone marrow failure syndromes.

Gutierrez-Rodrigues F et al.

Best Practice & Research. Clinical Haematology, 2021

Advances in germline predisposition to acute leukaemias and myeloid neoplasms.

Klco JM et al.

Nature Reviews. Cancer, 2021

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

Yoshida M et al.

British Journal of Haematology, 2020

Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder.

Roucher-Boulez F et al.

Frontiers in Endocrinology, 2019

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

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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."