Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.S364del1
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GLA

NM_000169.3:p.S364del1

Associated Papers

Axon guidance deficits in a human sensory-like neuron model of Fabry disease.

Erbacher C et al.

Experimental Neurology, 2026

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

Klein T et al.

Brain Communications, 2024

8th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities in 2024.

Unknown Author

Nephron, 2024

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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."