Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.I133N
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GLA

NM_000169.3:p.I133N

Associated Papers

Functional characterization of novel variants found in patients with suspected Fabry disease.

Varela-Calais P et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022

Simple and efficient screening of patients with Fabry disease with high resolution melting.

Pasqualim G et al.

Clinical Biochemistry, 2018

Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy.

Biancini GB et al.

Biochimica Et Biophysica Acta, 2012

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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."