Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.E218_I219insFs
Back to variants list

GLA

NM_000169.3:p.E218_I219insFs

Associated Papers

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.

Maruyama H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29543226 (PubMed )
Supplement: 41436_2018_239_MOESM1_ESM.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."