Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.G85V
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GLA

NM_000169.3:p.G85V

Associated Papers

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

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Vivante A et al.

Pediatric Nephrology (berlin, Germany), 2019

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.

Maruyama H et al.

Genetics in Medicine : Official Journal of the American College of Medical 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."