Varaico: Literature-Extracted Genetic Variants

Gene:GIGYF2
Variant:p.H1171R
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GIGYF2

NM_001103146.3:p.H1171R

Associated Papers

Guam ALS-PDC is a distinct double-prion disorder featuring both tau and Aβ prions.

Condello C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36952379 (PubMed )
Supplement: pnas.2220984120.sapp.pdf

Familial Intracranial Aneurysm in Newfoundland: Clinical and Genetic Analysis.

Powell AE et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2019

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Likely_Benign

The contribution of GIGYF2 to Parkinson's disease: a meta-analysis.

Zhang Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015

From genes to proteins in mendelian Parkinson's disease: an overview.

Pirkevi C et al.

Anatomical Record (hoboken, N.j. : 2007), 2009

GIGYF2 variants are not associated with Parkinson's disease in Italy.

Bonetti M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

Lack of replication of association between GIGYF2 variants and Parkinson disease.

Bras J et al.

Human Molecular 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."