|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
|
28830496 |
2017 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
|
28830496 |
2017 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
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
|
0.100 |
GeneticVariation
|
phenotype |
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
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
|
27264265 |
2016 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience.
|
26003066 |
2015 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
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
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis?
|
24697796 |
2014 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.
|
23104983 |
2013 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
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
|
0.100 |
GeneticVariation
|
phenotype |
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
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
COMMD1-mediated ubiquitination regulates CFTR trafficking.
|
21483833 |
2011 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
|
20932301 |
2010 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Independent contribution of common CFTR variants to chronic pancreatitis.
|
19812525 |
2010 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
|
20059485 |
2010 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
|
18685558 |
2009 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
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
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.
|
19166122 |
2008 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
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
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
[Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)].
|
17507277 |
2007 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
CausalMutation
|
phenotype |
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 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.
|
16196493 |
2006 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
|
16840743 |
2006 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
CausalMutation
|
phenotype |
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 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.
|
15744523 |
2005 |