Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.K764E
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SAMD9

NM_017654.4:p.K764E

Associated Papers

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

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."