Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.R42H
Back to variants list

PRKN

NM_004562.3:p.R42H

Associated Papers

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.

Lubbe SJ et al.

Human Molecular Genetics, 2021

33448283 (PubMed )
Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx

Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease.

Halder T et al.

The Indian Journal of Medical Research, 2020

A genetic analysis of a Spanish population with early onset Parkinson's disease.

Cristina TP et al.

Plos One, 2020

32870915 (PubMed )
Supplement: pone.0238098.s003.pdf

The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.

Yi W et al.

Human Molecular Genetics, 2019

Fine mapping and identification of candidate genes for the sy-2 locus in a temperature-sensitive chili pepper (Capsicum chinense).

Liu L et al.

Tag. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik, 2016

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

Genomics of complex disorders II.

Unknown Author

Genomic Medicine, 2008

Genomics of complex disorders II.

Unknown Author

Genomic Medicine, 2008

Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients.

Biswas A et al.

Parkinsonism & Related Disorders, 2006

Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease.

Madegowda RH et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."