Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.L1114L
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LRRK2

NM_198578.4:p.L1114L

Associated Papers

LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain.

Parlar SC et al.

Npj Parkinson's Disease, 2025

40301370 (PubMed )
Supplement: 41531_2025_934_MOESM1_ESM.xlsx › Supplementary_Data_4

LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study.

Skorvanek M et al.

Parkinsonism & Related Disorders, 2021

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

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

Ross OA et al.

The Lancet. Neurology, 2011

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

LRRK2 gene variation and its contribution to Parkinson disease.

Paisán-Ruiz C

Human Mutation, 2009

LRRK2 screening in a Canadian Parkinson's disease cohort.

Grimes DA et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2007

Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease.

Hedrich K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2006

LRRK2 in Parkinson's disease: protein domains and functional insights.

Mata IF et al.

Trends in Neurosciences, 2006

Lrrk2 pathogenic substitutions in Parkinson's disease.

Mata IF et al.

Neurogenetics, 2005

Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.

Berg D et al.

Brain : a Journal of Neurology, 2005

Common variants of LRRK2 are not associated with sporadic Parkinson's disease.

Biskup S et al.

Annals of Neurology, 2005

An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.

Funayama M et al.

Annals of Neurology, 2005

POLG mutations and Alpers syndrome.

Davidzon G et al.

Annals of Neurology, 2005

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.

Zimprich A et al.

Neuron, 2004

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