GJB1 c.247_249delinsTTT ;(p.L83F)

Variant ID: X-70443804-CTA-TTT

NM_000166.5(GJB1):c.247_249delinsTTT;(p.L83F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A fully atomistic model of the Cx32 connexon.

Plos One
Pantano, Sergio S; Zonta, Francesco F; Mammano, Fabio F
Publication Date: 2008-07-02

Variant appearance in text: CMTX: L83F
PubMed Link: 18648547
Variant Present in the following documents:
  • Main text
  • pone.0002614.pdf
View BVdb publication page