ENG c.1123G>T ;(p.E375*)

Variant ID: 9-130586594-C-A

NM_001114753.2(ENG):c.1123G>T;(p.E375*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.

Molecular Syndromology
Govani, F S FS; Giess, A A; Mollet, I G IG; Begbie, M E ME; Jones, M D MD; Game, L L; Shovlin, C L CL
Publication Date: 2013-04

Variant appearance in text: ENG: 1123G>T
PubMed Link: 23801935
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02

Variant appearance in text:
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page