Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y134C
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GLA

NM_000169.3:p.Y134C

Associated Papers

Maturation of Lysosomal α-Galactosidase A and Implications for Fabry Disease.

Aral E et al.

Nephron, 2025

Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo.

Paz OTD et al.

Jornal Brasileiro De Nefrologia, 0

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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."