Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.R1993*
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LRRK2

NM_198578.4:p.R1993*

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

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.

Blauwendraat C et al.

Jama Neurology, 2018

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

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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."