Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.Q1286K
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SAMD9

NM_017654.4:p.Q1286K

Associated Papers

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

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

Jeffries L et al.

American Journal of Medical Genetics. Part A, 2018

The complex domain architecture of SAMD9 family proteins, predicted STAND-like NTPases, suggests new links to inflammation and apoptosis.

Mekhedov SL et al.

Biology Direct, 2017

28545555 (PubMed )
Supplement: 13062_2017_185_MOESM2_ESM.pdf

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Narumi S et al.

Nature Genetics, 2016

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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."