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PSEN1 c.569A>G ;(p.N190S)
Variant ID: 14-73659372-A-G
NM_000021.3(
PSEN1
):c.569A>G;(p.N190S)
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:
Heterologous prion interactions are altered by mutations in the prion protein Rnq1p.
Journal Of Molecular Biology
Bardill, J Patrick JP; True, Heather L HL
Publication Date: 2009-05-08
Variant appearance in text: S182: N190S
PubMed Link:
19324054
Variant Present in the following documents:
Main text
View BVdb publication page