| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | UNIPROT | Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. | 19914445 | 2009 |
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|
0.710 | GeneticVariation | UNIPROT | Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures. | 20008117 | 2010 |
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|
0.710 | GeneticVariation | UNIPROT | Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant. | 20150177 | 2010 |
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|
0.710 | GeneticVariation | UNIPROT | Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. | 20605539 | 2010 |
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|
0.710 | GeneticVariation | UNIPROT | Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. | 20675678 | 2010 |
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|
0.710 | GeneticVariation | UNIPROT | ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. | 21422883 | 2011 |
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|
0.710 | GeneticVariation | UNIPROT | Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. | 22475884 | 2012 |
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|
0.710 | GeneticVariation | UNIPROT | Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. | 24014130 | 2014 |
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|
0.710 | GeneticVariation | UNIPROT | Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. | 25431289 | 2014 |
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|
0.710 | GeneticVariation | UNIPROT | Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. | 25981758 | 2015 |