rs191456345
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
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
rs191456345
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
GeneticVariation
CLINVAR
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
28830496
2017
rs193922511
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
CausalMutation
CLINVAR
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
28830496
2017
rs191456345
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
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
rs193922511
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
CausalMutation
CLINVAR
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
27264265
2016
rs193922511
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
CausalMutation
CLINVAR
Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience.
26003066
2015
rs191456345
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
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
rs397508462
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
C
0.700
GeneticVariation
CLINVAR
Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis?
24697796
2014
rs191456345
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
GeneticVariation
CLINVAR
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.
23687349
2013
rs191456345
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
GeneticVariation
CLINVAR
Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.
23104983
2013
rs191456345
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
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
rs397508462
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
C
0.700
GeneticVariation
CLINVAR
COMMD1-mediated ubiquitination regulates CFTR trafficking.
21483833
2011
rs191456345
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
GeneticVariation
CLINVAR
Independent contribution of common CFTR variants to chronic pancreatitis.
19812525
2010
rs193922511
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
CausalMutation
CLINVAR
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
20059485
2010
rs397508462
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
C
0.700
GeneticVariation
CLINVAR
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
20932301
2010
rs191456345
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
GeneticVariation
CLINVAR
The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders.
19810821
2009
rs193922511
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
CausalMutation
CLINVAR
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
18685558
2009
rs397508462
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
C
0.700
GeneticVariation
CLINVAR
Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.
19166122
2008
rs191456345
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
GeneticVariation
CLINVAR
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.
17413420
2007
rs193922511
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
CausalMutation
CLINVAR
[Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)].
17507277
2007
rs193922511
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
CausalMutation
CLINVAR
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
17329263
2007
rs191456345
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
GeneticVariation
CLINVAR
Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.
16196493
2006
rs193922511
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
G
0.700
CausalMutation
CLINVAR
[Role of deep seminal tract imaging in the diagnosis of unilateral agenesis of the vas deferens. Case report of a patient with CFTR gene mutation].
17175965
2006
rs397508462
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
C
0.700
GeneticVariation
CLINVAR
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
16840743
2006
rs397508462
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
C
0.700
GeneticVariation
CLINVAR
A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.
15744523
2005