Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C223S
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GLA

NM_000169.3:p.C223S

Associated Papers

Magnetic Resonance Imaging Findings Related to Stroke Risk in Japanese Patients With Fabry Disease.

Yagita Y et al.

Stroke, 2019

31337300 (PubMed )
Supplement: str_stroke-2019-025528_supp1.pdf

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.

Hossain MA et al.

Molecular Genetics and Metabolism Reports, 2019

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

Kobayashi M et al.

Journal of Human Genetics, 2019

Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease.

Okada J et al.

Molecular Genetics and Metabolism Reports, 2018

Impact of cysteine variants on the structure, activity, and stability of recombinant human α-galactosidase A.

Qiu H et al.

Protein Science : a Publication of the Protein Society, 2015

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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."