LRRK2 c.4883G>T ;(p.R1628L)

Variant ID: 12-40713845-G-T

NM_198578.3(LRRK2):c.4883G>T;(p.R1628L)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Modeling alpha-synuclein pathology in a human brain-chip to assess blood-brain barrier disruption.

Nature Communications
Pediaditakis, Iosif I; Kodella, Konstantia R KR; Manatakis, Dimitris V DV; Le, Christopher Y CY; Hinojosa, Chris D CD; Tien-Street, William W; Manolakos, Elias S ES; Vekrellis, Kostas K; Hamilton, Geraldine A GA; Ewart, Lorna L; Rubin, Lee L LL; Karalis, Katia K
Publication Date: 2021-10-08

Variant appearance in text: rs33949390
PubMed Link: 34625559
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_26066.pdf
View BVdb publication page



Differences in MTHFR and LRRK2 variant's association with sporadic Parkinson's disease in Mexican Mestizos correlated to Native American ancestry.

Npj Parkinson'S Disease
Romero-Gutiérrez, Elizabeth E; Vázquez-Cárdenas, Paola P; Moreno-Macías, Hortensia H; Salas-Pacheco, José J; Tusié-Luna, Teresa T; Arias-Carrión, Oscar O
Publication Date: 2021-02-11

Variant appearance in text: rs33949390
PubMed Link: 33574311
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_157.pdf
View BVdb publication page



Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

International Journal Of Molecular Sciences
Chittoor-Vinod, Vinita G VG; Nichols, R Jeremy RJ; Schüle, Birgitt B
Publication Date: 2021-01-21

Variant appearance in text: N/A
PubMed Link: 33494262
Variant Present in the following documents:
View BVdb publication page



Protective Variants in Alzheimer's Disease.

Current Genetic Medicine Reports
Andrews, Shea J SJ; Fulton-Howard, Brian B; Goate, Alison A
Publication Date: 2019-03

Variant appearance in text: rs33949390
PubMed Link: 33117616
Variant Present in the following documents:
  • Main text
View BVdb publication page



Parkinson's disease in China: a forty-year growing track of bedside work.

Translational Neurodegeneration
Li, Gen G; Ma, Jianfang J; Cui, Shishuang S; He, Yixi Y; Xiao, Qin Q; Liu, Jun J; Chen, Shengdi S
Publication Date: 2019

Variant appearance in text: rs33949390
PubMed Link: 31384434
Variant Present in the following documents:
  • Main text
  • 40035_2019_Article_162.pdf
View BVdb publication page



Low statistical power in biomedical science: a review of three human research domains.

Royal Society Open Science
Dumas-Mallet, Estelle E; Button, Katherine S KS; Boraud, Thomas T; Gonon, Francois F; Munafò, Marcus R MR
Publication Date: 2017-02

Variant appearance in text: rs33949390
PubMed Link: 28386409
Variant Present in the following documents:
  • rsos160254supp3.xlsx, sheet 1
  • rsos160254supp3.xlsx, sheet 9
View BVdb publication page



Poor replication validity of biomedical association studies reported by newspapers.

Plos One
Dumas-Mallet, Estelle E; Smith, Andy A; Boraud, Thomas T; Gonon, François F
Publication Date: 2017

Variant appearance in text: rs33949390
PubMed Link: 28222122
Variant Present in the following documents:
  • pone.0172650.s003.xlsx, sheet 7
View BVdb publication page



Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.

Scientific Reports
Yuan, Lamei L; Song, Zhi Z; Deng, Xiong X; Zheng, Wen W; Guo, Yi Y; Yang, Zhijian Z; Deng, Hao H
Publication Date: 2016-09-22

Variant appearance in text: rs33949390
PubMed Link: 27653456
Variant Present in the following documents:
  • Main text
  • srep33850.pdf
  • srep33850-s1.pdf
View BVdb publication page



Replication Validity of Initial Association Studies: A Comparison between Psychiatry, Neurology and Four Somatic Diseases.

Plos One
Dumas-Mallet, Estelle E; Button, Katherine K; Boraud, Thomas T; Munafo, Marcus M; Gonon, François F
Publication Date: 2016

Variant appearance in text: rs33949390
PubMed Link: 27336301
Variant Present in the following documents:
  • pone.0158064.s002.xlsx, sheet 8
View BVdb publication page