Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.E341*
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GLA

NM_000169.3:p.E341*

Associated Papers

Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.

Faro DC et al.

Genes, 2023

Speckle tracking echocardiography-derived parameters as new prognostic markers in hypertrophic cardiomyopathies.

Faro DC et al.

European Heart Journal Open, 2023

Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.

Monte MA et al.

Life (basel, Switzerland), 2022

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

Duro G et al.

International Journal of Molecular Sciences, 2018

Molecular and clinical studies in five index cases with novel mutations in the GLA gene.

Zizzo C et al.

Gene, 2016

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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."