Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_provenance.
- NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_assertion description "[P450 oxidoreductase deficiency (ORD) has a complex phenotype including two unique features not observed in any other CAH variant, skeletal malformations and severe genital ambiguity in both sexes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_provenance.
- NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_assertion evidence source_evidence_literature NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_provenance.
- NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_assertion SIO_000772 17223983 NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_provenance.
- NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_assertion wasDerivedFrom befree-20150227 NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_provenance.
- NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_assertion wasGeneratedBy ECO_0000203 NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP799963.RAMHwjq2QzvIw6g8GgELLBcFEoCNlrduGwZ8zOIkMQVb0130_provenance.