Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.A15V
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GLA

NM_000169.3:p.A15V

Associated Papers

Population Frequency of Undiagnosed Fabry Disease in the General Population.

Kermond-Marino A et al.

Kidney International Reports, 2023

37441486 (PubMed )
Supplement: mmc1.pdf

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

Mutation analysis of the GLA gene in Chinese patients with intracerebral hemorrhage.

Tang L et al.

Neurobiology of Aging, 2021

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.

Doheny D et al.

Journal of Medical Genetics, 2018

The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type Specific.

Ferreira S et al.

Jimd Reports, 2015

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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."