Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.S193I
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PRKN

NM_004562.3:p.S193I

Associated Papers

Pathogenesis of Parkinson's disease: from hints from monogenic familial PD to biomarkers.

Hattori N et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2024

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

Twenty years since the discovery of the parkin gene.

Hattori N et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2017

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

Wauer T et al.

The Embo Journal, 2013

Identification of a novel Zn2+-binding domain in the autosomal recessive juvenile Parkinson-related E3 ligase parkin.

Hristova VA et al.

The Journal of Biological Chemistry, 2009

Early-onset Parkinson's disease in a Chinese population: 99mTc-TRODAT-1 SPECT, Parkin gene analysis and clinical study.

Shyu WC et al.

Parkinsonism & Related Disorders, 2005

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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."