CFTR c.2722A>T ;(p.T908S)

Variant ID: 7-117243650-A-T

NM_000492.3(CFTR):c.2722A>T;(p.T908S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Plos One
Masson, Emmanuelle E; Chen, Jian-Min JM; Audrézet, Marie-Pierre MP; Cooper, David N DN; Férec, Claude C
Publication Date: 2013

Variant appearance in text: CFTR: T908S
PubMed Link: 23951356
Variant Present in the following documents:
  • pone.0073522.s001.xls, sheet 1
View BVdb publication page



Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

The Journal Of Molecular Diagnostics : Jmd
Audrezet, Marie-Pierre MP; Dabricot, Aurélia A; Le Marechal, Cédric C; Ferec, Claude C
Publication Date: 2008-09

Variant appearance in text: CFTR: T908S
PubMed Link: 18687795
Variant Present in the following documents:
  • Main text
View BVdb publication page