Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.N271D
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SI

NM_001041.4:p.N271D

Associated Papers

Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.

Boueri M et al.

Molecular Genetics and Metabolism, 2026

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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."