Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.R49H
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GLA

NM_000169.3:p.R49H

Associated Papers

Identification of c.146G > A mutation in a Fabry patient and its correction by customized Cas9 base editors in vitro.

Yang Z et al.

International Journal of Biological Macromolecules, 2024

Concurrent fabry disease and immunoglobulin a nephropathy: a case report.

Zhou LN et al.

Bmc Nephrology, 2023

Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

Kobayashi M et al.

Journal of Human Genetics, 2019

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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."