Varaico: Literature-Extracted Genetic Variants

Gene:FARS2
Variant:p.V174_G175del1
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FARS2

NM_006567.5:p.V174_G175del1

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG77

Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review.

Zhang X et al.

Bmc Neurology, 2024

Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia.

Panzeri E et al.

Frontiers in Genetics, 2023

Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.

Li L et al.

European Journal of Medical Research, 2022

Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function.

Chen X et al.

Cell & Bioscience, 2022

FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.

Sahai SK et al.

Annals of Clinical and Translational Neurology, 2018

New insights into the phenotype of FARS2 deficiency.

Vantroys E et al.

Molecular Genetics and Metabolism, 2017

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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."