CFTR c.1591T>A ;(p.S531T)

Variant ID: 7-117227799-T-A

NM_000492.3(CFTR):c.1591T>A;(p.S531T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Folding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteins.

The Journal Of Biological Chemistry
Da Paula, Ana Carina AC; Sousa, Marisa M; Xu, Zhe Z; Dawson, Elizabeth S ES; Boyd, A Christopher AC; Sheppard, David N DN; Amaral, Margarida D MD
Publication Date: 2010-08-27

Variant appearance in text: CFTR: S531T
PubMed Link: 20551307
Variant Present in the following documents:
  • Main text
View BVdb publication page