Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.N885delFs
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SAMD9L

NM_152703.5:p.N885delFs

Associated Papers

New SAMD9L heterozygous mutation leading to myelodysplastic syndrome and acute myeloid leukemia: A case report and review of the literature.

Monagel DA

Cancer Reports (hoboken, N.j.), 2023

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

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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."