GJB1 c.11C>A ;(p.T4K)

Variant ID: X-70443568-C-A

NM_000166.5(GJB1):c.11C>A;(p.T4K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters
Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A
Publication Date: 2021-01-23

Variant appearance in text: GJB1: T4K
PubMed Link: 33359733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

European Journal Of Human Genetics : Ejhg
Miltenberger-Miltenyi, Gabriel G; Schwarzbraun, Thomas T; Löscher, Wolfgang N WN; Wanschitz, Julia J; Windpassinger, Christian C; Duba, Hans-Christoph HC; Seidl, Rainer R; Albrecht, Gerhard G; Weirich-Schwaiger, Helga H; Zoller, Heinz H; Utermann, Gerd G; Auer-Grumbach, Michaela M; Janecke, Andreas R AR
Publication Date: 2009-09

Variant appearance in text: GJB1: 11C>A
PubMed Link: 19259128
Variant Present in the following documents:
  • Main text
View BVdb publication page