Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.V293V
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PINK1

NM_032409.3:p.V293V

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

PINK1 polymorphism IVS1-7 A-->G, exposure to environmental risk factors and anticipation of disease onset in Brazilian patients with early-onset Parkinson's Disease.

Godeiro C et al.

Neuroscience Letters, 2010

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."