CFTR c.746A>C ;(p.D249A)

Variant ID: 7-117176604-A-C

NM_000492.3(CFTR):c.746A>C;(p.D249A)

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: D249A
PubMed Link: 27550551
Variant Present in the following documents:
  • Main text
  • srep31933.pdf
View BVdb publication page