LRRK2 c.1414G>A ;(p.G472R)

Variant ID: 12-40651175-G-A

NM_198578.3(LRRK2):c.1414G>A;(p.G472R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Coku, Ilda I; Mutez, Eugénie E; Eddarkaoui, Sabiha S; Carrier, Sébastien S; Marchand, Antoine A; Deldycke, Claire C; Goveas, Liesel L; Baille, Guillaume G; Tir, Mélissa M; Magnez, Romain R; Thuru, Xavier X; Vermeersch, Gaëlle G; Vandenberghe, Wim W; Buée, Luc L; Defebvre, Luc L; Sablonnière, Bernard B; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM; Huin, Vincent V
Publication Date: 2022-08

Variant appearance in text: LRRK2: G472R
PubMed Link: 35708213
Variant Present in the following documents:
  • Main text
  • MDS-37-1761.pdf
View BVdb publication page



Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Cells
Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2021-04-22

Variant appearance in text: LRRK2: G472R
PubMed Link: 33922322
Variant Present in the following documents:
  • Main text
View BVdb publication page