Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_provenance.
- NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_assertion wasGeneratedBy ECO_0000218 NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_provenance.
- NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_assertion wasDerivedFrom uniprot-20130724 NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_provenance.
- NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_assertion SIO_000772 12219090 NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_provenance.
- NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_assertion evidence source_evidence_curated NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_provenance.
- NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_assertion description "[Subsequently, we identified mutations in IRF6 in 45 additional unrelated families affected with VWS and distinct mutations in 13 families affected with PPS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3313.RAJ4D8WJE428xxQvxCg73XLYrQfkA8M6ItBjRwNOpI9Eg130_provenance.