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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAGA

Variant:p.Y108_V109Splc

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NAGA

NM_000262.3:p.Y108_V109Splc

hg38:chr22:42067291 C>T

Associated Papers

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.

Tsukimura T et al.

Molecular Genetics and Metabolism Reports, 2014

27896103 (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."