Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C90W
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GLA

NM_000169.3:p.C90W

Associated Papers

Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype.

Singh J et al.

Current Issues in Molecular Biology, 2025

The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.

Sorriento D et al.

International Journal of Molecular Sciences, 2021

Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Čerkauskaitė A et al.

Medicina (kaunas, Lithuania), 2019

Impact of cysteine variants on the structure, activity, and stability of recombinant human α-galactosidase A.

Qiu H et al.

Protein Science : a Publication of the Protein Society, 2015

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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."