Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_provenance.
- NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_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." NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_provenance.
- NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_assertion evidence source_evidence_curated NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_provenance.
- NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_assertion SIO_000772 11502818 NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_provenance.
- NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_assertion wasDerivedFrom ctd_human-20150221 NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_provenance.
- NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_assertion wasGeneratedBy ECO_0000218 NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP11987.RAISZqZVu-_YlWhkHF6JO6mcciFLt7pes_gbFzMKus8uw130_provenance.