Varaico: Literature-Extracted Genetic Variants

Gene:FBXO7
Variant:p.N51S
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FBXO7

NM_012179.4:p.N51S

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

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

Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease.

Lorenzo-Betancor O et al.

Parkinsonism & Related Disorders, 2020

Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family.

Jin X et al.

Journal of Clinical Laboratory Analysis, 2020

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

Correa-Vela M et al.

Annals of Clinical and Translational Neurology, 2020

Juvenile-onset parkinsonism with pyramidal signs due to compound heterozygous mutations in the F-Box only protein 7 gene.

Wei L et al.

Parkinsonism & Related Disorders, 2018

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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."