Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_provenance.
- NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_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." NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_provenance.
- NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_assertion evidence source_evidence_curated NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_provenance.
- NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_assertion SIO_000772 20080860 NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_provenance.
- NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_assertion wasDerivedFrom uniprot-20130724 NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_provenance.
- NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_assertion wasGeneratedBy ECO_0000218 NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1701.RAFfCjMEfcaosuhesQ9qAyFOXNCBEOyKcaD2A7IP0NPnU130_provenance.