Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.C301Y
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SLC5A2

NM_003041.4:p.C301Y

Associated Papers

Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre.

McCarron EP et al.

Molecular Genetics and Metabolism Reports, 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."