Varaico: Literature-Extracted Genetic Variants

Gene:FBXO7
Variant:p.R481C
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FBXO7

NM_012179.4:p.R481C

Associated Papers

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

The characteristics of FBXO7 and its role in human diseases.

Zhong Y et al.

Gene, 2023

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Gialluisi A et al.

Molecular Neurodegeneration, 2021

34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf

From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations.

Erro R et al.

Parkinsonism & Related Disorders, 2019

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

Linking F-box protein 7 and parkin to neuronal degeneration in Parkinson's disease (PD).

Zhou ZD et al.

Molecular Brain, 2016

Systematic mutational analysis of FBXO7 in a Parkinson's disease population from southern Spain.

Gómez-Garre P et al.

Neurobiology of Aging, 2014

Beyond ubiquitination: the atypical functions of Fbxo7 and other F-box proteins.

Nelson DE et al.

Open Biology, 2013

Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene.

Radi E et al.

Journal of Cellular and Molecular Medicine, 2012

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

Santoro L et al.

Neurogenetics, 2011

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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."