Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Q99delFs
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GLA

NM_000169.3:p.Q99delFs

Associated Papers

AA amyloidosis associated with Fabry disease.

Terré A et al.

International Journal of Clinical Practice, 2020

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.

Heo SH et al.

Journal of Medical Genetics, 2017

Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.

Kim JH et al.

Journal of Human Genetics, 2016

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

Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

Park JY et al.

Experimental & Molecular Medicine, 2009

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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."