PRNP c.608T>G ;(p.V203G)

Variant ID: 20-4680474-T-G

NM_000311.3(PRNP):c.608T>G;(p.V203G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.

Brain : A Journal Of Neurology
Schmitz, Matthias M; Villar-Piqué, Anna A; Hermann, Peter P; Escaramís, Geòrgia G; Calero, Miguel M; Chen, Cao C; Kruse, Niels N; Cramm, Maria M; Golanska, Ewa E; Sikorska, Beata B; Liberski, Pawel P PP; Pocchiari, Maurizio M; Lange, Peter P; Stehmann, Christiane C; Sarros, Shannon S; Martí, Eulàlia E; Baldeiras, Inês I; Santana, Isabel I; Žáková, Dana D; Mitrová, Eva E; Dong, Xiao-Ping XP; Collins, Steven S; Poleggi, Anna A; Ladogana, Anna A; Mollenhauer, Brit B; Kovacs, Gabor G GG; Geschwind, Michael D MD; Sánchez-Valle, Raquel R; Zerr, Inga I; Llorens, Franc F
Publication Date: 2022-04-18

Variant appearance in text: CJD: V203G
PubMed Link: 35288744
Variant Present in the following documents:
  • Main text
  • awab350.pdf
View BVdb publication page



Probing early misfolding events in prion protein mutants by NMR spectroscopy.

Molecules (Basel, Switzerland)
Giachin, Gabriele G; Biljan, Ivana I; Ilc, Gregor G; Plavec, Janez J; Legname, Giuseppe G
Publication Date: 2013-08-07

Variant appearance in text: PRNP: V203G
PubMed Link: 23966072
Variant Present in the following documents:
  • Main text
  • molecules-18-09451.pdf
View BVdb publication page