Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF2
Variant:p.Q1001Q
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GIGYF2

NM_001103147.2:p.Q1001Q

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

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

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

Meta-analyses of seven GIGYF2 polymorphisms with Parkinson's disease.

Dai D et al.

Biomedical Reports, 2014

Follow-up study of variants of the GIGYF2 gene in Chinese patients with Parkinson’s disease.

Wang L et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2011

No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients.

Li L et al.

Neuroscience Letters, 2010

The GIGYF2 variants are not associated with Parkinson's disease in the mainland Chinese population.

Cao L et al.

Parkinsonism & Related Disorders, 2010

GIGYF2 mutations are not a frequent cause of familial Parkinson's disease.

Di Fonzo A et al.

Parkinsonism & Related Disorders, 2009

Non-synonymous GIGYF2 variants in Parkinson's disease from two Asian populations.

Tan EK et al.

Human Genetics, 2009

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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."