Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_provenance.
- NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_assertion description "[A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_provenance.
- NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_assertion evidence source_evidence_literature NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_provenance.
- NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_assertion SIO_000772 8550766 NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_provenance.
- NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_assertion wasDerivedFrom befree-20140225 NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_provenance.
- NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_assertion wasGeneratedBy ECO_0000203 NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP468719.RAcrsayXMWpHJHOKraKXmhQXxqum7EX4QJdvLUsWulCBQ130_provenance.