Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.V30L
Back to variants list

PRKN

NM_004562.3:p.V30L

Associated Papers

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

Puschmann A

Parkinsonism & Related Disorders, 2013

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

Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.

Pankratz N et al.

American Journal of Human Genetics, 2002

Genetic dissection of familial Parkinson's disease.

Riess O et al.

Molecular Medicine Today, 1998

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."