Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.D57fs
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FA2H

NM_024306.5:p.D57fs

Associated Papers

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

Kilic MA et al.

Pediatric Neurology, 2024

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

Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features.

Incecik F et al.

Annals of Indian Academy of Neurology, 0

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."