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PRNP c.559_560delinsGC ;(p.H187A)
Variant ID: 20-4680425-CA-GC
NM_000311.3(
PRNP
):c.559_560delinsGC;(p.H187A)
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:
Conformational instability of human prion protein upon residue modification: a molecular dynamics simulation study.
Excli Journal
Bamdad, Kourosh K; Naderi-Manesh, Hossein H; Baumgaertner, Artur A
Publication Date: 2014
Variant appearance in text: CJD: H187A
PubMed Link:
26417255
Variant Present in the following documents:
Main text
EXCLI-13-212.pdf
View BVdb publication page