Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF2
Variant:p.E518E
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GIGYF2

NM_001103146.3:p.E518E

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

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

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

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.

Lautier C et al.

American Journal of Human Genetics, 2008

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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."