Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion wasGeneratedBy ECO_0000218 NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion wasDerivedFrom uniprot-20150221 NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion SIO_000772 24914498 NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion evidence source_evidence_curated NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.
- NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_assertion description "[Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP359.RAUxAyPEJ2RsSC5XO9egWjt06LnJbYcsMX4-0W7vmC5ho130_provenance.