Associated Papers
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
The classification of ATP-binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system.
Denman L et al.
Pediatric Investigation, 2018
Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.
Paolini A et al.
International Journal of Molecular Sciences, 2015
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.
Ciantelli M et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2011
Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.
Matsumura Y et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2008
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
Shulenin S et al.
The New England Journal of Medicine, 2004
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