Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_provenance.
- NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_assertion description "[Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_provenance.
- NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_assertion evidence source_evidence_curated NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_provenance.
- NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_assertion SIO_000772 20080860 NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_provenance.
- NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_assertion wasDerivedFrom uniprot-2016 NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_provenance.
- NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_assertion wasGeneratedBy ECO_0000218 NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6066.RAIczhkx4R_DlqMWq-uDSglbfBzeyncFoEky03P1U95qA130_provenance.