GJB1 c.446_447delinsGG ;(p.F149W)

Variant ID: X-70444003-TC-GG

NM_000166.5(GJB1):c.446_447delinsGG;(p.F149W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Tryptophan Scanning Reveals Dense Packing of Connexin Transmembrane Domains in Gap Junction Channels Composed of Connexin32.

The Journal Of Biological Chemistry
Brennan, Matthew J MJ; Karcz, Jennifer J; Vaughn, Nicholas R NR; Woolwine-Cunningham, Yvonne Y; DePriest, Adam D AD; Escalona, Yerko Y; Perez-Acle, Tomas T; Skerrett, I Martha IM
Publication Date: 2015-07-10

Variant appearance in text: CMTX: F149W
PubMed Link: 25969535
Variant Present in the following documents:
  • Main text
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