Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP114312.RA2R5AU6KK9tqhVW7LzumL5yJj8xBUpe9C0TAjlNwvIyk#provenance>. }
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- source_evidence_curated type ECO_0000205 provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." provenance.
- assertion description "[BCS1L mutations cause disease phenotypes ranging from highly restricted pili torti and sensorineural hearing loss (the Bj?rnstad syndrome) to profound multisystem organ failure (complex III deficiency and the GRACILE syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 17314340 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.
- UNIPROT importedOn "2017-01-25" provenance.