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NOTCH1 c.4125G>T ;(p.L1375=)
Variant ID: 9-139400223-C-A
NM_017617.3(
NOTCH1
):c.4125G>T;(p.L1375=)
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:
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.
Human Molecular Genetics
McBride, Kim L KL; Riley, Maurisa F MF; Zender, Gloria A GA; Fitzgerald-Butt, Sara M SM; Towbin, Jeffrey A JA; Belmont, John W JW; Cole, Susan E SE
Publication Date: 2008-09-15
Variant appearance in text:
PubMed Link:
18593716
Variant Present in the following documents:
Main text
View BVdb publication page