Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_assertion description "[Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_assertion evidence source_evidence_literature NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_assertion SIO_000772 11502818 NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_assertion wasDerivedFrom befree-20150227 NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_assertion wasGeneratedBy ECO_0000203 NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.