Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.K878fs
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SAMD9L

NM_152703.5:p.K878fs

Associated Papers

SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.

Russell AJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.

de Jesus AA et al.

The Journal of Clinical Investigation, 2020

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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."