Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.Y170C
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FA2H

NM_024306.5:p.Y170C

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

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

German A et al.

Genes, 2023

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

Bektaş G et al.

The Turkish Journal of Pediatrics, 2017

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

Martinuzzi A et al.

Plos One, 2016

27077743 (PubMed )
Supplement: pone.0153283.s002.pdf

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

Marelli C et al.

Movement Disorders Clinical Practice, 2015

A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.

Cao L et al.

Journal of the Neurological Sciences, 2013

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.

Tonelli A et al.

European Journal of Neurology, 2012

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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."