Varaico: Literature-Extracted Genetic Variants

Gene:FBXO7
Variant:p.R345P
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FBXO7

NM_012179.4:p.R345P

Associated Papers

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

A Practical Approach to Early-Onset Parkinsonism.

Riboldi GM et al.

Journal of Parkinson's Disease, 2022

34569973 (PubMed )
Supplement: jpd-12-jpd212815-s001.pdf

A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome.

Wang Z et al.

Parkinsonism & Related Disorders, 2021

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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."