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PRNP c.638_639delinsGC ;(p.M213S)
Variant ID: 20-4680504-TG-GC
NM_000311.3(
PRNP
):c.638_639delinsGC;(p.M213S)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Methionine oxidation within the prion protein.
Prion
Bettinger, John J; Ghaemmaghami, Sina S
Publication Date: 2020-12
Variant appearance in text: CJD: M213S
PubMed Link:
32744136
Variant Present in the following documents:
Main text
KPRN_14_1796898.pdf
View BVdb publication page
Impact of methionine oxidation as an initial event on the pathway of human prion protein conversion.
Prion
Elmallah, Mohammed I Y MI; Borgmeyer, Uwe U; Betzel, Christian C; Redecke, Lars L
Publication Date: 2013
Variant appearance in text: CJD: M213S
PubMed Link:
24121542
Variant Present in the following documents:
Main text
View BVdb publication page
Dynamic diagnosis of familial prion diseases supports the β2-α2 loop as a universal interference target.
Plos One
Meli, Massimiliano M; Gasset, Maria M; Colombo, Giorgio G
Publication Date: 2011-04-28
Variant appearance in text: PRNP: M213S
PubMed Link:
21552571
Variant Present in the following documents:
Main text
pone.0019093.pdf
View BVdb publication page