|
rs368505753
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Although the decline of lung function did not differ from ΔF508 homozygotes, the fact that a greater proportion of P67L heterozygotes live to an older age suggests that lung function is not the primary factor determining CF progression for P67L heterozygote patients.
|
28392015 |
2017 |
|
rs368505753
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Improved clinical and radiographic outcomes after treatment with ivacaftor in a young adult with cystic fibrosis with the P67L CFTR mutation.
|
25732475 |
2015 |
|
rs368505753
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.
|
23891399 |
2014 |
|
rs368505753
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
|
rs368505753
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
|
rs368505753
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
|
rs368505753
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
|
rs368505753
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
|
20008117 |
2010 |
|
rs368505753
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
|
20150177 |
2010 |
|
rs368505753
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
|
18456578 |
2008 |
|
rs368505753
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.
|
17495464 |
2007 |
|
rs368505753
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
|
16822950 |
2007 |
|
rs368505753
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.
|
17495464 |
2007 |
|
rs368505753
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
|
16840743 |
2006 |
|
rs368505753
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
|
16840743 |
2006 |
|
rs368505753
|
|
|
0.820 |
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 |
|
rs368505753
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
|
16189704 |
2005 |
|
rs368505753
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
|
15287992 |
2004 |
|
rs368505753
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
|
15287992 |
2004 |
|
rs368505753
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
|
15698946 |
2004 |
|
rs368505753
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.
|
12865275 |
2003 |
|
rs368505753
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
|
12529365 |
2003 |
|
rs368505753
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
|
12007216 |
2002 |
|
rs368505753
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
|
12007216 |
2002 |
|
rs368505753
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
|
12167682 |
2002 |