×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.
30146269
2019
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.
30726326
2019
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
29497617
2018
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
30046002
2018
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.
28544683
2018
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
29805046
2018
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?
27086061
2017
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
27738188
2017
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
The population genetics of human disease: The case of recessive, lethal mutations.
28957316
2017
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.
26471113
2017
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
28546993
2017
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.
29178639
2017
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
A new insight into CFTR allele frequency in Brazil through next generation sequencing.
28771972
2017
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.
27717243
2017
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
28603918
2017
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
26708955
2016
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.
26826884
2016
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.
26990548
2016
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
CT-abnormalities, bacteriology and symptoms of sinonasal disease in children with Cystic Fibrosis.
27049043
2016
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
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
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
26014425
2016
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
High ambient temperature and risk of intestinal obstruction in cystic fibrosis.
27145507
2016
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
25674778
2016
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
CausalMutation
CLINVAR
Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.
26631874
2016
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
1.000
GeneticVariation
CLINVAR
Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.
27022295
2016