Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.M432V
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PRKN

NM_004562.3:p.M432V

Associated Papers

Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.

Step K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445612 (PubMed )
Supplement: media-1.pdf

Capturing the catalytic intermediates of parkin ubiquitination.

Connelly EM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Understanding monogenic Parkinson's disease at a global scale.

Junker J et al.

Medrxiv : the Preprint Server for Health Sciences, 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

Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease.

Carr J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

A new tool for prioritization of sequence variants from whole exome sequencing data.

Glanzmann B et al.

Source Code for Biology and Medicine, 2016

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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."