Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C174*
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GLA

NM_000169.3:p.C174*

Associated Papers

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

Mauhin W et al.

Plos One, 2020

Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.

Mauhin W et al.

Orphanet Journal of Rare Diseases, 2018

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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."