Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.F39L
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FA2H

NM_024306.5:p.F39L

Associated Papers

Somatic Mutations in Nuclear and Mitochondrial Genes of Mitochondrial Proteins in Primary and Recurrent Glioblastoma.

Tompa M et al.

International Journal of Molecular Sciences, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG35

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.

Bektaş G et al.

The Turkish Journal of Pediatrics, 2017

Novel FA2H mutation in a girl with familial spastic paraplegia.

Aguirre-Rodríguez FJ et al.

Journal of the Neurological Sciences, 2015

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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."