Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L268fs
Back to variants list

GLA

NM_000169.3:p.L268fs

Associated Papers

Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.

Guo W et al.

Journal of Advanced Research, 2026

Therapeutic effects of lomerizine on vasculopathy in Fabry disease.

Choi JB et al.

Scientific Reports, 2025

40175492 (PubMed )
Supplement: 41598_2025_94795_MOESM2_ESM.pdf

Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.

Borisch C et al.

Journal of Translational Medicine, 2024

Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.

Muntean C et al.

Frontiers in Pediatrics, 2022

Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells.

Do HS et al.

Ebiomedicine, 2020

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH et al.

Medicine, 2017

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."