NOTCH1 c.894G>C ;(p.E298D)

Variant ID: 9-139413248-C-G

NM_017617.3(NOTCH1):c.894G>C;(p.E298D)

This variant was identified in 3 publications

View GRCh38 version.




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