Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.H200Q
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PRKN

NM_004562.3:p.H200Q

Associated Papers

Structure of the human Parkin ligase domain in an autoinhibited state.

Wauer T et al.

The Embo Journal, 2013

23727886 (PubMed )
Supplement: emboj2013125s1.pdf

Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.

Haylett WL et al.

Parkinsonism & Related Disorders, 2012

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

Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease.

Bardien S et al.

Parkinsonism & Related Disorders, 2009

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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."