CFTR c.779_780delinsAC ;(p.V260D)

Variant ID: 7-117176637-TG-AC

NM_000492.3(CFTR):c.779_780delinsAC;(p.V260D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Disease-Homologous Mutation in the Cation Diffusion Facilitator Protein MamM Causes Single-Domain Structural Loss and Signifies Its Importance.

Scientific Reports
Barber-Zucker, Shiran S; Uebe, René R; Davidov, Geula G; Navon, Yotam Y; Sherf, Dror D; Chill, Jordan H JH; Kass, Itamar I; Bitton, Ronit R; Schüler, Dirk D; Zarivach, Raz R
Publication Date: 2016-08-23

Variant appearance in text: CFTR: V260D
PubMed Link: 27550551
Variant Present in the following documents:
  • Main text
  • srep31933.pdf
View BVdb publication page