Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_provenance.
- NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_assertion description "[A branch-site mutation leading to abnormal splicing of exon 13 of the endoglin transcript was identified in a child with hereditary hemorrhagic telangiectasia related pulmonary arterial hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_provenance.
- NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_assertion evidence source_evidence_literature NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_provenance.
- NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_assertion SIO_000772 15687131 NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_provenance.
- NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_assertion wasDerivedFrom lhgdn-20090331 NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_provenance.
- NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_assertion wasGeneratedBy ECO_0000203 NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP209049.RAsL1mycw1ohKnItElq5VHujqIQaYnUYAJXrJMNv7HaYA130_provenance.