Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.G274D
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GLA

NM_000169.3:p.G274D

Associated Papers

Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.

Guo W et al.

Journal of Advanced Research, 2026

Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy.

Laffer B et al.

Frontiers in Immunology, 2024

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

Savostyanov K et al.

Genes, 2023

Renal-skin syndromes.

Has C et al.

Cell and Tissue Research, 2017

[The molecular genetic diagnostic of Gaucher disease type I].

Lukina KA et al.

Klinicheskaia Laboratornaia Diagnostika, 2014

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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."