Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.E87D
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GLA

NM_000169.3:p.E87D

Associated Papers

Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.

Biddeci G et al.

Cells, 2025

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.

Anania M et al.

International Journal of Molecular Sciences, 2025

Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.

Savostyanov K et al.

Genes, 2023

Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.

Rossi F et al.

High Blood Pressure & Cardiovascular Prevention : the Official Journal of the Italian Society of Hypertension, 2021

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Duro G et al.

International Journal of Molecular Sciences, 2018

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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."