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CSMD1 c.303-403G>A
Variant ID: 8-4277990-C-T
NM_033225.5(
CSMD1
):c.303-403G>A
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The Diverse Role of CUB and Sushi Multiple Domains 1 (CSMD1) in Human Diseases.
Genes
Ermis Akyuz, Esra E; Bell, Sandra M SM
Publication Date: 2022-12-10
Variant appearance in text: rs12681349
PubMed Link:
36553598
Variant Present in the following documents:
Main text
genes-13-02332.pdf
View BVdb publication page
CUB and Sushi Multiple Domains (CSMD1) Gene Polymorphisms and Susceptibilities to Idiopathic Parkinson's Disease in Northern Chinese Han Population: A Case-Control Study.
Parkinson'S Disease
Bai, Xinling X; Jin, Jianing J; Li, Shanshan S; Wang, Huimin H; Xie, Anmu A
Publication Date: 2021
Variant appearance in text: rs12681349
PubMed Link:
33628416
Variant Present in the following documents:
Main text
PD2021-6661162.pdf
View BVdb publication page
Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease.
Neurology. Genetics
Ruiz-Martínez, Javier J; Azcona, Luis J LJ; Bergareche, Alberto A; Martí-Massó, Jose F JF; Paisán-Ruiz, Coro C
Publication Date: 2017-10
Variant appearance in text: rs12681349
PubMed Link:
28808687
Variant Present in the following documents:
Main text
NG2017004952.pdf
View BVdb publication page
Identification of a novel Parkinson's disease locus via stratified genome-wide association study.
Bmc Genomics
Hill-Burns, Erin M EM; Wissemann, William T WT; Hamza, Taye H TH; Factor, Stewart A SA; Zabetian, Cyrus P CP; Payami, Haydeh H
Publication Date: 2014-02-10
Variant appearance in text: rs12681349
PubMed Link:
24511991
Variant Present in the following documents:
Main text
1471-2164-15-118.pdf
View BVdb publication page