Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.A29delFs
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GLA

NM_000169.3:p.A29delFs

Associated Papers

Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.

Guo W et al.

Journal of Advanced Research, 2026

Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.

Tsukimura T et al.

Molecular Genetics and Metabolism Reports, 2020

Fabry disease in a Japanese population-molecular and biochemical characteristics.

Sakuraba H et al.

Molecular Genetics and Metabolism Reports, 2018

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.

Sueoka H et al.

Plos One, 2015

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.

Tsukimura T et al.

Molecular Genetics and Metabolism Reports, 2014

[Molecular genetics of Fabry disease].

Sakuraba H

Seikagaku. the Journal of Japanese Biochemical Society, 1989

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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."