Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.R1707K
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LRRK2

NM_198578.4:p.R1707K

Associated Papers

Abundant non-inclusion α-synuclein pathology in Lewy body-negative LRRK2-mutant cases.

Jensen NM et al.

Acta Neuropathologica, 2025

40314782 (PubMed )
Supplement: 401_2025_2871_MOESM1_ESM.pdf

The emerging role of LRRK2 in tauopathies.

Herbst S et al.

Clinical Science (london, England : 1979), 2022

Glial cells and adaptive immunity in frontotemporal dementia with tau pathology.

Hartnell IJ et al.

Brain : a Journal of Neurology, 2021

Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

Chittoor-Vinod VG et al.

International Journal of Molecular Sciences, 2021

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.

Sanchez-Contreras M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

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."