Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.F896V
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SAMD9L

NM_152703.5:p.F896V

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

Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.

Vaughan D et al.

Journal of the Peripheral Nervous System : Jpns, 2020

Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations - a case report.

Thunström S et al.

Bmc Neurology, 2019

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