Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP12015.RAkDAYBkjmEoZErMSVQ_vMElup5x-_hqSH7_P9f7TU6UM#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- assertion description "[4 large novel deletions in ALK1 gene in a group of 45 clinically confirmed hereditary haemorrhagic telangiectasia families/families, the whole ALK1 gene was deleted/spanned at least 216 kb & included LOC728503, ANKRD33, ACVR1B, GRASP, & NR4A1]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18312453 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- LHGDN importedOn "2009-03-31" provenance.