Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.P44delFs
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FA2H

NM_024306.5:p.P44delFs

Associated Papers

Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).

German A et al.

Genes, 2023

The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.

Hashemi N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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."