Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.N53_L54delFs
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GLA

NM_000169.3:p.N53_L54delFs

Associated Papers

Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.

van der Veen SJ et al.

International Journal of Molecular Sciences, 2020

32806627 (PubMed )
Supplement: ijms-21-05784-s001.pdf

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

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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."