Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L394P
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GLA

NM_000169.3:p.L394P

Associated Papers

Czech nationwide screening for Fabry disease in patients on maintenance dialysis: a call for evaluation of population-enriched GLA gene variants of uncertain significance.

Rychlík I et al.

Clinical Kidney Journal, 2025

Impact of ER stress and the unfolded protein response on Fabry disease.

Lenders M et al.

Ebiomedicine, 2025

The Inflammatory Pathogenetic Pathways of Fabry Nephropathy and Agalopathy: <italic>GLA</italic> Variant Induction of Endoplasmic Reticulum Stress.

Feriozzi S et al.

Nephron, 2025

Lysosomal Storage-Independent Fabry Disease Variants with α-Galactosidase A Misprocessing-Induced ER Stress and the Unfolded Protein Response.

Živná M et al.

Nephron, 2025

Recent Advances in Understanding the Pathophysiology of Fabry Disease.

Warnock DG et al.

Nephron, 2025

Screening for Fabry Disease-Related Mutations Among 829 Kidney Transplant Recipients.

Kljajic M et al.

Journal of Clinical Medicine, 2024

LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method.

Kuchar L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.

Romani I et al.

Journal of the Neurological Sciences, 2024

Isolated left bundle branch block in the young: case reports and review of literature.

Kohli U et al.

Pacing and Clinical Electrophysiology : Pace, 2021

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Simoncini C et al.

Journal of Neurology, 2020

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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."