Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y184N
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GLA

NM_000169.3:p.Y184N

Associated Papers

Clinical characteristics of female Fabry disease patients with hypertrophic cardiomyopathy with mid-ventricular obstruction.

Inagaki N et al.

Molecular Genetics and Metabolism Reports, 2025

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Simoncini C et al.

Journal of Neurology, 2020

Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction.

Inagaki N et al.

Journal of Human Genetics, 2018

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Duro G et al.

International Journal of Molecular Sciences, 2018

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Non-Classic

Novel alpha-galactosidase A mutation in a female with recurrent strokes.

Tuttolomondo A et al.

Clinical Biochemistry, 2012

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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."