GJB1 c.589G>T ;(p.A197S)

Variant ID: X-70444146-G-T

NM_000166.5(GJB1):c.589G>T;(p.A197S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Connexinopathies: a structural and functional glimpse.

Bmc Cell Biology
García, Isaac E IE; Prado, Pavel P; Pupo, Amaury A; Jara, Oscar O; Rojas-Gómez, Diana D; Mujica, Paula P; Flores-Muñoz, Carolina C; González-Casanova, Jorge J; Soto-Riveros, Carolina C; Pinto, Bernardo I BI; Retamal, Mauricio A MA; González, Carlos C; Martínez, Agustín D AD
Publication Date: 2016-05-24

Variant appearance in text: CMTX: A197S
PubMed Link: 27228968
Variant Present in the following documents:
  • Main text
View BVdb publication page