Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.G183Splc
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GLA

NM_000169.3:p.G183Splc

Associated Papers

Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease.

Hotta J et al.

Cureus, 2024

Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.

Nakamura K et al.

Molecular Genetics and Metabolism Reports, 2023

Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.

Maruyama H et al.

Current Issues in Molecular Biology, 2021

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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."