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PRNP c.49A>C ;(p.S17R)
Variant ID: 20-4679915-A-C
NM_000311.3(
PRNP
):c.49A>C;(p.S17R)
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:
Evolutionary route of nasopharyngeal carcinoma metastasis and its clinical significance.
Nature Communications
Lin, Mei M; Zhang, Xiao-Long XL; You, Rui R; Liu, You-Ping YP; Cai, Hong-Min HM; Liu, Li-Zhi LZ; Liu, Xue-Fei XF; Zou, Xiong X; Xie, Yu-Long YL; Zou, Ru-Hai RH; Zhang, Yi-Nuan YN; Sun, Rui R; Feng, Wei-Yi WY; Wang, Hai-Yan HY; Tao, Gui-Hua GH; Li, Hao-Jiang HJ; Huang, Wen-Jie WJ; Zhang, Chao C; Huang, Pei-Yu PY; Wang, Jin J; Zhao, Qi Q; Yang, Qi Q; Zhang, Hong-Wan HW; Liu, Ting T; Li, Hui-Feng HF; Jiang, Xiao-Bing XB; Tang, Jun J; Gu, Yang-Kui YK; Yu, Tao T; Wang, Zhi-Qiang ZQ; Feng, Lin L; Kang, Tie-Bang TB; Zuo, Zhi-Xiang ZX; Chen, Ming-Yuan MY
Publication Date: 2023-02-04
Variant appearance in text: PRNP: 49A>C; S17R
PubMed Link:
36739462
Variant Present in the following documents:
41467_2023_35995_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Proteinase K resistant cores of prions and amyloids.
Prion
Kushnirov, Vitaly V VV; Dergalev, Alexander A AA; Alexandrov, Alexander I AI
Publication Date: 2020-12
Variant appearance in text: CJD: S17R
PubMed Link:
31876447
Variant Present in the following documents:
Main text
kprn-14-01-1704612.pdf
View BVdb publication page