Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.L272L
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PRKN

NM_004562.3:p.L272L

Associated Papers

Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease.

Halder T et al.

The Indian Journal of Medical Research, 2020

Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease.

Fan K et al.

Parkinson's Disease, 2019

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
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