Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.E409G
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PRKN

NM_004562.3:p.E409G

Associated Papers

GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance.

Granek Z et al.

International Journal of Molecular Sciences, 2023

Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.

Guadagnolo D et al.

Frontiers in Neurology, 2021

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.

Robak LA et al.

Neurology. Genetics, 2020

Clinical utility of different bone marrow examination methods in the diagnosis of adults with sporadic Gaucher disease type 1.

Machaczka M et al.

Polskie Archiwum Medycyny Wewnetrznej, 2014

Gaucher disease paradigm: from ERAD to comorbidity.

Bendikov-Bar I et al.

Human Mutation, 2012

Genetic susceptibility in Parkinson's disease.

Bras JM et al.

Biochimica Et Biophysica Acta, 2009

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

Nichols WC et al.

Neurology, 2009

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

Aharon-Peretz J et al.

The New England Journal of Medicine, 2004

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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."