Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.K1423K
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LRRK2

NM_198578.4:p.K1423K

Associated Papers

No evidence for the LRRK2 p.L1795F variant in a Southern Italian cohort with Parkinson's disease.

Gagliardi M et al.

Gene, 2026

Parkinson's Disease Genetics and Pathophysiology.

Vázquez-Vélez GE et al.

Annual Review of Neuroscience, 2021

Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.

Torrealba-Acosta G et al.

Frontiers in Neurology, 2021

34421783 (PubMed )
Supplement: Data_Sheet_1.ZIP › Supplementary_Tables_Costa_Rica_updated.xlsx › Suppl_Table_3_Common_Variants

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Oluwole OG et al.

Bmc Medical Genetics, 2020

32019516 (PubMed )
Supplement: 12881_2020_953_MOESM8_ESM.xlsx › Variants_identified_in_PD_genes

Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population.

Janković MZ et al.

Journal of the Neurological Sciences, 2015

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Rubio JP et al.

Human Mutation, 2012

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

Ross OA et al.

The Lancet. Neurology, 2011

Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease.

Abdalla-Carvalho CB et al.

European Journal of Neurology, 2010

Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.

Jasinska-Myga B et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2010

LRRK2 variation and Parkinson's disease in African Americans.

Ross OA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2010

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

A novel LRRK2 mutation in a mainland Chinese patient with familial Parkinson's disease.

Wang L et al.

Neuroscience Letters, 2010

LRRK2 gene variation and its contribution to Parkinson disease.

Paisán-Ruiz C

Human Mutation, 2009

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation.

Johnson J et al.

Neuro-degenerative Diseases, 2007

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

Di Fonzo A et al.

European Journal of Human Genetics : Ejhg, 2006

Lrrk2 pathogenic substitutions in Parkinson's disease.

Mata IF et al.

Neurogenetics, 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."