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PRNP c.386_387delinsGC ;(p.M129S)
Variant ID: 20-4680252-TG-GC
NM_000311.3(
PRNP
):c.386_387delinsGC;(p.M129S)
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:
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: M129S
PubMed Link:
24121542
Variant Present in the following documents:
Main text
View BVdb publication page