Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.A190fs
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GLA

NM_000169.3:p.A190fs

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

Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.

Klein A et al.

Journal of Inherited Metabolic Disease, 2024

Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data.

Klein T et al.

Brain Communications, 2024

Dorsal root ganglion magnetic resonance imaging biomarker correlations with pain in Fabry disease.

Schindehütte M et al.

Brain Communications, 2024

38751382 (PubMed )
Supplement: fcae155_supplementary_data.pdf

Endothelial Cell Dysfunction and Hypoxia as Potential Mediators of Pain in Fabry Disease: A Human-Murine Translational Approach.

Klug K et al.

International Journal of Molecular Sciences, 2023

X-chromosomal inactivation patterns in women with Fabry disease.

Wagenhäuser L et al.

Molecular Genetics & Genomic Medicine, 2022

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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."