Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP11978.RA9EFyRNp83hQzNmCdB_7M2Leg0AU7xK--Sys7MluuytI#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 "[The hereditary hemorrhagic telangiectasia family is caused by a 145delG mutation of ACVRL1 gene, resulting in frameshift and a new stop codon at codon 53.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18543223 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- LHGDN importedOn "2009-03-31" provenance.