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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAGA

Variant:p.Y215C

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NAGA

NM_000262.3:p.Y215C

hg38:chr22:42065853 T>C

Associated Papers

Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.

Erdos M et al.

Molecular Genetics and Metabolism, 2008

18849176 (PubMed )

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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."