Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y329delFs
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GLA

NM_000169.3:p.Y329delFs

Associated Papers

Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy.

Boyd AC et al.

Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography, 2013

Clinical features of Fabry's disease in Australian patients.

Galanos J et al.

Internal Medicine Journal, 2002

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.

Blanch LC et al.

Human Mutation, 1996

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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."