Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.F11_S12del1
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FA2H

NM_024306.5:p.F11_S12del1

Associated Papers

An atypical case of FA2H-related HSP35 with subtle neuroimaging findings and a novel variant in a young adult with spastic paraparesis.

Roy S et al.

Acta Neurologica Belgica, 2025

A novel neurodegenerative spectrum disorder in patients with MLKL deficiency.

Faergeman SL et al.

Cell Death & Disease, 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."