Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.L168S
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ELOVL4

NM_022726.4:p.L168S

Associated Papers

Emerging insights into the function of very long chain fatty acids at cerebellar synapses.

Agbaga MP et al.

Neural Regeneration Research, 2025

Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34.

Gazulla J et al.

Cerebellum (london, England), 2024

The Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model.

Fessler JL et al.

Cerebellum (london, England), 2024

A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.

Gyening YK et al.

Acta Neuropathologica Communications, 2023

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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."