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NOTCH1 c.688_690delinsTGT ;(p.G230C)
Variant ID: 9-139417354-CCC-ACA
NM_017617.3(
NOTCH1
):c.688_690delinsTGT;(p.G230C)
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:
Toward the Effective Bioengineering of a Pathological Tissue for Cardiovascular Disease Modeling: Old Strategies and New Frontiers for Prevention, Diagnosis, and Therapy.
Frontiers In Cardiovascular Medicine
Iop, Laura L
Publication Date: 2020
Variant appearance in text: NOTCH1: G230C
PubMed Link:
33748193
Variant Present in the following documents:
fcvm-07-591583.pdf
View BVdb publication page