Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.D155E
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GLA

NM_000169.3:p.D155E

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

Rescue from sudden ventricular tachycardia and fibrillation using wearable cardioverter-defibrillator in male late-onset Fabry disease patient.

Okuyama T et al.

Journal of Cardiology Cases, 2025

Population Frequency of Undiagnosed Fabry Disease in the General Population.

Kermond-Marino A et al.

Kidney International Reports, 2023

37441486 (PubMed )
Supplement: mmc1.pdf

Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

Kobayashi M et al.

Journal of Human Genetics, 2019

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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."