Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.A291delFs
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PRKN

NM_004562.3:p.A291delFs

Associated Papers

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

Parkin and Parkinson's disease.

Mizuno Y et al.

Current Opinion in Neurology, 2001

New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism.

Terreni L et al.

Neurology, 2001

A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism.

Muñoz E et al.

Neuroscience Letters, 2000

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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."