Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L394delFs
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GLA

NM_000169.3:p.L394delFs

Associated Papers

Fabry disease screening in high-risk populations in Japan: a nationwide study.

Yoshida S et al.

Orphanet Journal of Rare Diseases, 2020

32843101 (PubMed )
Supplement: 13023_2020_1494_MOESM5_ESM.xlsx › Sheet1

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

Vieitez I et al.

Orphanet Journal of Rare Diseases, 2018

Multiple parapelvic cysts in Fabry disease.

Azancot MA et al.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0

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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."