Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C378F
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GLA

NM_000169.3:p.C378F

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

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

Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.

Tsukimura T et al.

Molecular Genetics and Metabolism Reports, 2020

Fabry disease in a Japanese population-molecular and biochemical characteristics.

Sakuraba H et al.

Molecular Genetics and Metabolism Reports, 2018

[Molecular genetics of Fabry disease].

Sakuraba H

Seikagaku. the Journal of Japanese Biochemical Society, 1989

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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."