GJB1 c.490_492delinsTAT ;(p.R164Y)

Variant ID: X-70444047-CGG-TAT

NM_000166.5(GJB1):c.490_492delinsTAT;(p.R164Y)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Neurology
Panosyan, Francis B FB; Laura, Matilde M; Rossor, Alexander M AM; Pisciotta, Chiara C; Piscosquito, Giuseppe G; Burns, Joshua J; Li, Jun J; Yum, Sabrina W SW; Lewis, Richard A RA; Day, John J; Horvath, Rita R; Herrmann, David N DN; Shy, Michael E ME; Pareyson, Davide D; Reilly, Mary M MM; Scherer, Steven S SS; ,
Publication Date: 2017-08-29

Variant appearance in text: GJB1: Arg164Tyr
PubMed Link: 28768847
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2017803221.pdf
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