GJB1 c.524A>G ;(p.N175S)

Variant ID: X-70444081-A-G

NM_000166.5(GJB1):c.524A>G;(p.N175S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Biomed Research International
Høyer, Helle H; Braathen, Geir J GJ; Busk, Øyvind L ØL; Holla, Øystein L ØL; Svendsen, Marit M; Hilmarsen, Hilde T HT; Strand, Linda L; Skjelbred, Camilla F CF; Russell, Michael B MB
Publication Date: 2014

Variant appearance in text: GJB1: 524A>G
PubMed Link: 25025039
Variant Present in the following documents:
  • BMRI2014-210401.pdf
View BVdb publication page