Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.L402fs
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SAMD9L

NM_152703.5:p.L402fs

Associated Papers

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.

Davidsson J et al.

Leukemia, 2018

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

Tesi B et al.

Blood, 2017

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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."