Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_provenance.
- NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_assertion description "[The BCD region of chromosome 4q35.1 was refined to an interval flanked centromerically by D4S2924 by linkage and haplotype analysis; mutations were found in the novel CYP450 family member CYP4V2 in 23 of 25 unrelated patients with BCD tested.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_provenance.
- NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_assertion evidence source_evidence_curated NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_provenance.
- NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_assertion SIO_000772 15042513 NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_provenance.
- NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_assertion wasDerivedFrom uniprot-20130724 NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_provenance.
- NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_assertion wasGeneratedBy ECO_0000218 NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_provenance.