EGR1 c.683dup ;(p.A229Gfs*65)

Variant ID: 5-137802820-T-TC

NM_001964.2(EGR1):c.683dup;(p.A229Gfs*65)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

European Journal Of Human Genetics : Ejhg
Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W
Publication Date: 2020-10

Variant appearance in text: 225: 683dup
PubMed Link: 32616876
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_653.pdf
View BVdb publication page