Varaico: Literature-Extracted Genetic Variants

Gene:FBXO7
Variant:p.L317L
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FBXO7

NM_012179.4:p.L317L

Associated Papers

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.

Grigor'eva EV et al.

International Journal of Molecular Sciences, 2023

36901867 (PubMed )
Supplement: ijms-24-04437-s001.zip › ijms-2163006-supplementary.pdf

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Oluwole OG et al.

Bmc Medical Genetics, 2020

32019516 (PubMed )
Supplement: 12881_2020_953_MOESM8_ESM.xlsx › Variants_identified_in_PD_genes

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.

Gambardella S et al.

Parkinson's Disease, 2018

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

Gómez-Garre P et al.

Neurobiology of Aging, 2014

Mutational analysis of FBXO7 gene in Parkinson's disease in a Taiwanese population.

Lin CH et al.

Neurobiology of Aging, 2013

FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients.

Luo LZ et al.

Neuroscience Letters, 2010

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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."