GJB1 c.613_614delinsTG ;(p.N205C)

Variant ID: X-70444170-AA-TG

NM_000166.5(GJB1):c.613_614delinsTG;(p.N205C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Site-directed mutagenesis reveals putative regions of protein interaction within the transmembrane domains of connexins.

Cell Communication & Adhesion
Toloue, M M MM; Woolwine, Y Y; Karcz, J A JA; Kasperek, E M EM; Nicholson, B J BJ; Skerrett, I M IM
Publication Date: 2008-05

Variant appearance in text: CMTX: N205C
PubMed Link: 18649182
Variant Present in the following documents:
  • Main text
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