Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.S2454L
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LRRK2

NM_198578.4:p.S2454L

Associated Papers

Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

Vaqué JP et al.

Plos One, 2015

25775023 (PubMed )
Supplement: pone.0119946.s007.xls › Hoja5

Cross-cancer profiling of molecular alterations within the human autophagy interaction network.

Lebovitz CB et al.

Autophagy, 2015

26208877 (PubMed )
Supplement: kaup-11-09-1067362-s001.zip › 1067362_supplemental_files › 2014AUTO0485R1-s03.xlsx › UCEC-mutations

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."