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PRNP c.599A>C ;(p.E200A)
Variant ID: 20-4680465-A-C
NM_000311.3(
PRNP
):c.599A>C;(p.E200A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Prion Mutations in Republic of Republic of Korea, China, and Japan.
International Journal Of Molecular Sciences
Kim, Dan Yeong DY; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-12-30
Variant appearance in text: CJD: E200A
PubMed Link:
36614069
Variant Present in the following documents:
Main text
ijms-24-00625.pdf
View BVdb publication page
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.
Plos One
Shi, Qi Q; Zhou, Wei W; Chen, Cao C; Zhang, Bao-Yun BY; Xiao, Kang K; Zhang, Xiu-Chun XC; Shen, Xiao-Jing XJ; Li, Qing Q; Deng, Li-Quan LQ; Dong, Jian-Hua JH; Lin, Wen-Qing WQ; Huang, Pu P; Jiang, Wei-Jia WJ; Lv, Jie J; Han, Jun J; Dong, Xiao-Ping XP
Publication Date: 2015
Variant appearance in text: CJD: E200A
PubMed Link:
26488179
Variant Present in the following documents:
Main text
pone.0139552.pdf
View BVdb publication page