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PRNP c.79_80delinsGC ;(p.K27A)
Variant ID: 20-4679945-AA-GC
NM_000311.3(
PRNP
):c.79_80delinsGC;(p.K27A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The prion protein is critical for DNA repair and cell survival after genotoxic stress.
Nucleic Acids Research
Bravard, Anne A; Auvré, Frédéric F; Fantini, Damiano D; Bernardino-Sgherri, Jacqueline J; Sissoëff, Ludmilla L; Daynac, Mathieu M; Xu, Zhou Z; Etienne, Olivier O; Dehen, Capucine C; Comoy, Emmanuel E; Boussin, François D FD; Tell, Gianluca G; Deslys, Jean-Philippe JP; Radicella, J Pablo JP
Publication Date: 2015-01
Variant appearance in text: PRNP: K27A
PubMed Link:
25539913
Variant Present in the following documents:
gku1342.pdf
View BVdb publication page