Varaico: Literature-Extracted Genetic Variants

Gene:FBXO7
Variant:p.S123*
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FBXO7

NM_012179.4:p.S123*

Associated Papers

FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature.

Şahin E et al.

Movement Disorders Clinical Practice, 2025

The characteristics of FBXO7 and its role in human diseases.

Zhong Y et al.

Gene, 2023

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Martínez-Rubio D et al.

International Journal of Molecular Sciences, 2022

Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation.

Kim EY et al.

Journal of Movement Disorders, 2022

35880381 (PubMed )
Supplement: jmd-22006-suppl.pdf

Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.

Hajati R et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.

Correa-Vela M et al.

Annals of Clinical and Translational Neurology, 2020

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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."