Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.N215H
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GLA

NM_000169.3:p.N215H

Associated Papers

Echocardiography-guided percutaneous intramyocardial septal radiofrequency ablation procedure for the treatment of Fabry disease: a case report.

Shi X et al.

European Heart Journal. Case Reports, 2025

Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.

Kuipers R et al.

Human Mutation, 2010

20629180 (PubMed )
Supplement: supplement_1.pdf
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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."