rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
|
|
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations.
|
11737931 |
2001 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A mutation in CFTR produces different phenotypes depending on chromosomal background.
|
7506096 |
1993 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.
|
7599637 |
1995 |
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Adenosine and its nucleotides activate wild-type and R117H CFTR through an A2B receptor-coupled pathway.
|
9950763 |
1999 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Because PPi stimulated wild-type channels, we tested its effect on CFTR containing the cystic fibrosis mutations: delta F508, R117H, and G551S.PPi stimulated all three.
|
7544788 |
1995 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
CFTR gene variant for patients with congenital absence of vas deferens.
|
7573058 |
1995 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.
|
19092437 |
2008 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
|
18456578 |
2008 |
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
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 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
|
15371902 |
2005 |
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
|
9272157 |
1997 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.
|
12767731 |
2003 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry.
|
8698344 |
1996 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.
|
9259197 |
1997 |
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Heterogeneity in hereditary pancreatitis.
|
9557894 |
1998 |