Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.R235H
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FA2H

NM_024306.5:p.R235H

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

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

A new model for fatty acid hydroxylase-associated neurodegeneration reveals mitochondrial and autophagy abnormalities.

Mandik F et al.

Frontiers in Cell and Developmental Biology, 2022

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW et al.

Brain : a Journal of Neurology, 2019

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.

Magariello A et al.

Journal of the Neurological Sciences, 2017

Leukodystrophy-Like Presentation in a Child: A Case of Hereditary Spastic Paraparesis-35.

Sugumar K et al.

Annals of Indian Academy of Neurology, 0

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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."