Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_provenance.
- NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_assertion wasGeneratedBy ECO_0000218 NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_provenance.
- NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_assertion wasDerivedFrom uniprot-20130724 NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_provenance.
- NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_assertion SIO_000772 7833923 NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_provenance.
- NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_assertion evidence source_evidence_curated NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_provenance.
- NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_assertion description "[Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_provenance.