Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.G46D
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FA2H

NM_024306.5:p.G46D

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

[FA2H gene-associated spastic paraplegia (SPG35) - familial case with late onset].

Rudenskaya GE et al.

Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2025

A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.

Mahungu AC et al.

Orphanet Journal of Rare Diseases, 2022

Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35.

Marelli C et al.

Movement Disorders Clinical Practice, 2015

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V et al.

Brain : a Journal of Neurology, 2014

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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."