LRRK2 c.3883T>C ;(p.W1295R)

Variant ID: 12-40699692-T-C

NM_198578.3(LRRK2):c.3883T>C;(p.W1295R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.

Journal Of Parkinson'S Disease
Salles, Philippe A PA; Liao, James J; Shuaib, Umar U; Mata, Ignacio F IF; Fernandez, Hubert H HH
Publication Date: 2022

Variant appearance in text: LRRK2: W1295R
PubMed Link: 35662127
Variant Present in the following documents:
  • Main text
  • jpd-12-jpd212986.pdf
View BVdb publication page



PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Giri, Anamika A; Guven, Gamze G; Hanagasi, Hasmet H; Hauser, Ann-Kathrin AK; Erginul-Unaltuna, Nihan N; Bilgic, Basar B; Gurvit, Hakan H; Heutink, Peter P; Gasser, Thomas T; Lohmann, Ebba E; Simón-Sánchez, Javier J
Publication Date: 2016

Variant appearance in text: LRRK2: W1295R
PubMed Link: 27127721
Variant Present in the following documents:
  • Main text
  • tre-06-363-7522-1.pdf
  • tre-06-363-7522-s005.pdf
View BVdb publication page