rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation.
|
25799511 |
2015 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population.
|
24440239 |
2014 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.
|
24440181 |
2014 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.
|
23891399 |
2014 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Ivacaftor in a G551D homozygote with cystic fibrosis.
|
24066763 |
2013 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
|
23951356 |
2013 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Among these mutations, the CF-causing missense mutation G551D-CFTR (approx.
|
22768251 |
2012 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
|
21520337 |
2011 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection.
|
20381036 |
2010 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
We hypothesized that CF patients with the G551D mutation would have less severe disease than F508del homozygotes.
|
19734299 |
2009 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.
|
19092437 |
2008 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
|
18456578 |
2008 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Since our screening protocol has enabled detection of R117H (ie, in 1995), 360466 newborns have been screened for cystic fibrosis in Brittany, of whom 124 had elevated immunoreactive trypsin and 2 mutations in the CFTR gene.
|
17015492 |
2006 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
|
15371902 |
2005 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
|
15371902 |
2005 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice.
|
15246977 |
2004 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.
|
12767731 |
2003 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.
|
12767731 |
2003 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
|
11168024 |
2001 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations.
|
11737931 |
2001 |