Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y365fs
Back to variants list

GLA

NM_000169.3:p.Y365fs

Associated Papers

Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.

Wallraven T et al.

Npj Genomic Medicine, 2026

41545379 (PubMed )
Supplement: 41525_2025_540_MOESM1_ESM.pdf

Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.

Sawada T et al.

Molecular Genetics & Genomic Medicine, 2020

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

Yoshida S et al.

Orphanet Journal of Rare Diseases, 2020

Pathological capillary analysis of ischemia with non-obstructive coronary arteries in a Fabry disease patient receiving enzyme replacement therapy.

Kanamori H et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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."