rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
25981758
2015
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
24014130
2014
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
25431289
2014
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
22475884
2012
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
21422883
2011
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
20675678
2010
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
20150177
2010
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
20008117
2010
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
20605539
2010
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
19914443
2009
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
19914445
2009
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
19888064
2009
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
BEFREE
An individual with the CFTR genotype R553X/F508del-R553Q showed the typical symptoms and electrophysiological anomalies of cystic fibrosis in the airways and intestine.
19176844
2009
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
16822950
2007
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
17761616
2007
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
15789152
2005
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.
15528182
2005
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
12529365
2003
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Standards and guidelines for CFTR mutation testing.
12394352
2003
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
12167682
2002
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
11280952
2001
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
9452073
1998
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
9554753
1998
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
9452054
1998
rs121909044
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.710
GeneticVariation
UNIPROT
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
8829633
1996