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
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation.
Caldirola MS et al.
Frontiers in Pediatrics, 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
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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