Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.M1I
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SMN1

NM_000344.4:p.M1I

Associated Papers

Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.

Leow EH et al.

International Urology and Nephrology, 2025

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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."