Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.S70L
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FA2H

NM_024306.5:p.S70L

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

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

Marelli C et al.

Movement Disorders Clinical Practice, 2015

SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.

Liao X et al.

Clinical Genetics, 2015

Heterozygous FA2H mutations in autism spectrum disorders.

Scheid I et al.

Bmc Medical Genetics, 2013

Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?

Rupps R et al.

Journal of Child Neurology, 2013

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

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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."