Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C90*
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GLA

NM_000169.3:p.C90*

Associated Papers

Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.

Modrego A et al.

International Journal of Molecular Sciences, 2021

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH et al.

Medicine, 2017

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.

Lee BH et al.

Journal of Human Genetics, 2010

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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."