Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.E341G
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GLA

NM_000169.3:p.E341G

Associated Papers

Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland.

Valtola K et al.

Esc Heart Failure, 2025

Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.

Yao F et al.

Human Genomics, 2024

Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Pan X et al.

Plos One, 2016

Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease.

Lubanda JC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009

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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."