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NOTCH1 c.894G>T ;(p.E298D)
Variant ID: 9-139413248-C-A
NM_017617.3(
NOTCH1
):c.894G>T;(p.E298D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Premature Myocardial Infarction: A Rising Threat.
Balkan Medical Journal
Kayikcioglu, Meral M; Ozkan, Hasan Selçuk HS; Yagmur, Burcu B
Publication Date: 2022-03-14
Variant appearance in text: NOTCH1: Glu298ASP
PubMed Link:
35330552
Variant Present in the following documents:
BMJ-39-83.pdf
View BVdb publication page
Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.
Frontiers In Cell And Developmental Biology
Martinelli, Marcella M; Palmieri, Annalisa A; Carinci, Francesco F; Scapoli, Luca L
Publication Date: 2020
Variant appearance in text: NOTCH1: E298D
PubMed Link:
33195260
Variant Present in the following documents:
Main text
fcell-08-592271.pdf
View BVdb publication page
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype.
Biomed Research International
Sticchi, Elena E; De Cario, Rosina R; Magi, Alberto A; Giglio, Sabrina S; Provenzano, Aldesia A; Nistri, Stefano S; Pepe, Guglielmina G; Giusti, Betti B
Publication Date: 2018
Variant appearance in text: NOTCH1: Glu298Asp
PubMed Link:
30255099
Variant Present in the following documents:
Main text
BMRI2018-8386123.pdf
View BVdb publication page