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- source_evidence_literature type ECO_0000212 NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_provenance.
- NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_assertion description "[De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_provenance.
- NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_assertion evidence source_evidence_literature NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_provenance.
- NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_assertion SIO_000772 21706002 NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_provenance.
- NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_assertion wasDerivedFrom befree-20150227 NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_provenance.
- NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_assertion wasGeneratedBy ECO_0000203 NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP978658.RAcnQfJMqIdNXar6Axsgh_qG-AIvzumJe3oOmwetT3fJo130_provenance.