Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.N765fs
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SAMD9

NM_017654.4:p.N765fs

Associated Papers

Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy.

Buonocore F et al.

F1000research, 2023

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

Suntharalingham JP et al.

Frontiers in Endocrinology, 2022

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

Davidsson J et al.

Leukemia, 2018

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.

Buonocore F et al.

The Journal of Clinical Investigation, 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."