rs121909005
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Detailed radiological analyses were performed by a single observer in 12 children with CF from the United Arab Emirates who were homozygous for CFTR mutation S549R (T-->G).
|
10401194 |
1999 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
BEFREE |
A standard OGTT was performed before and after 16weeks of treatment with ivacaftor in 2 sibling patients with CF carrying the S549R gating mutation.
|
26547591 |
2016 |
rs121909005
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Ivacaftor potentiation of multiple CFTR channels with gating mutations.
|
22293084 |
2012 |
rs121909005
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs121909005
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
|
18456578 |
2008 |
rs121909005
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Detailed radiological analyses were performed by a single observer in 12 children with CF from the United Arab Emirates who were homozygous for CFTR mutation S549R (T-->G).
|
10401194 |
1999 |
rs121909005
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Mild clinical phenotype associated with R1158X/S549R(T-->G) CFTR genotype.
|
11005149 |
2000 |
rs121909005
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
|
|
|
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
|
20008117 |
2010 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
rs121909005
|
|
|
0.820 |
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 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
|
8406518 |
1993 |
rs121909005
|
|
|
0.820 |
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 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
|
12167682 |
2002 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
|
9452054 |
1998 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
rs121909005
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
|
7524909 |
1994 |
rs121909005
|
|
|
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 |