|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
|
20008117 |
2010 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
|
20150177 |
2010 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
|
16822950 |
2007 |
|
Cystic Fibrosis
|
|
0.800 |
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 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
|
12529365 |
2003 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
|
12167682 |
2002 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
|
9452054 |
1998 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
|
9554753 |
1998 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.
|
8956039 |
1996 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
|
8723693 |
1996 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
|
8522333 |
1995 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
|
7524909 |
1994 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
|
8406518 |
1993 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
|
7683628 |
1993 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
|
1284529 |
1992 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
|
1710600 |
1991 |
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
|
Cystic Fibrosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hereditary pancreatitis
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Congenital bilateral aplasia of vas deferens
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|