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LRRK2 c.4323C>A ;(p.R1441=)
Variant ID: 12-40704238-C-A
NM_198578.3(
LRRK2
):c.4323C>A;(p.R1441=)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
LRRK2 and Parkinson's disease: from genetics to targeted therapy.
Annals Of Clinical And Translational Neurology
Sosero, Yuri L YL; Gan-Or, Ziv Z
Publication Date: 2023-04-06
Variant appearance in text: LRRK2: R1441R
PubMed Link:
37021623
Variant Present in the following documents:
Main text
ACN3-10-850.pdf
View BVdb publication page
Dopamine Transporter, PhosphoSerine129 α-Synuclein and α-Synuclein Levels in Aged LRRK2 G2019S Knock-In and Knock-Out Mice.
Biomedicines
Domenicale, Chiara C; Mercatelli, Daniela D; Albanese, Federica F; Novello, Salvatore S; Vincenzi, Fabrizio F; Varani, Katia K; Morari, Michele M
Publication Date: 2022-04-12
Variant appearance in text: LRRK2: R1441R
PubMed Link:
35453631
Variant Present in the following documents:
Main text
biomedicines-10-00881.pdf
View BVdb publication page
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.
Movement Disorders : Official Journal Of The Movement Disorder Society
Schneider, Susanne A SA; Alcalay, Roy N RN
Publication Date: 2017-11
Variant appearance in text: LRRK2: R1441R
PubMed Link:
29124790
Variant Present in the following documents:
Main text
View BVdb publication page
The neuropathology of genetic Parkinson's disease.
Movement Disorders : Official Journal Of The Movement Disorder Society
Poulopoulos, Markos M; Levy, Oren A OA; Alcalay, Roy N RN
Publication Date: 2012-06
Variant appearance in text: LRRK2: R1441R
PubMed Link:
22451330
Variant Present in the following documents:
Main text
View BVdb publication page
Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.
Biochimica Et Biophysica Acta
Biskup, Saskia S; West, Andrew B AB
Publication Date: 2009-07
Variant appearance in text: LRRK2: R1441R
PubMed Link:
18973807
Variant Present in the following documents:
Main text
View BVdb publication page