Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.K130insFs
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GLA

NM_000169.3:p.K130insFs

Associated Papers

Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy.

Monney P et al.

Swiss Medical Weekly, 2017

Fabry disease in a geriatric population.

Barbey F et al.

Clinical Genetics, 2015

Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.

Rohard I et al.

Journal of Inherited Metabolic Disease, 2008

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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."