|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
|
8723693 |
1996 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K.
|
1718974 |
1991 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
|
rs121908755
|
|
|
0.830 |
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 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
|
9554753 |
1998 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
|
rs121908755
|
|
|
0.830 |
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 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
|
20150177 |
2010 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
|
1284529 |
1992 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
|
9452054 |
1998 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
|
7524909 |
1994 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.
|
7680378 |
1993 |
|
rs121908755
|
|
|
0.830 |
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 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
|
12529365 |
2003 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
|
12167682 |
2002 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
BEFREE |
A strategy for mutation screening for CF in India must involve testing for p.F508del followed by c.1161delC, c.3849+10 kb C>T and p.S549N.
|
17716958 |
2008 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
|
25431289 |
2014 |