Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.Q1043K
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SAMD9L

NM_152703.5:p.Q1043K

Associated Papers

Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.

Zingariello CD et al.

Movement Disorders Clinical Practice, 2024

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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."