ACVRL1 c.172G>T ;(p.E58*)

Variant ID: 12-52306993-G-T

NM_000020.2(ACVRL1):c.172G>T;(p.E58*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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