Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.R100*
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GLA

NM_000169.3:p.R100*

Associated Papers

Small fiber neuropathy in pediatric female heterozygotes of Fabry disease: a twin case report.

Castellar-Leones SM et al.

Bmc Pediatrics, 2025

Fabry disease in the Spanish population: observational study with detection of 77 patients.

Vieitez I 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."