|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators.
|
28785019 |
2017 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
|
28830496 |
2017 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.
|
25735457 |
2016 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.
|
25033378 |
2014 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.
|
23687349 |
2013 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.
|
23104983 |
2013 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens.
|
22483971 |
2012 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Independent contribution of common CFTR variants to chronic pancreatitis.
|
19812525 |
2010 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders.
|
19810821 |
2009 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.
|
17413420 |
2007 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.
|
16196493 |
2006 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?
|
15097853 |
2004 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia.
|
10376575 |
1999 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.
|
9305991 |
1997 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.
|
9239681 |
1996 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
|
7529962 |
1995 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
|
7739684 |
1995 |