Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.H215Q
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PRKN

NM_004562.3:p.H215Q

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

Decision between mitophagy and apoptosis by Parkin via VDAC1 ubiquitination.

Ham SJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

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

Wauer T et al.

The Embo Journal, 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

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

Pigullo S et al.

Parkinsonism & Related Disorders, 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."