Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_provenance.
- NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_assertion description "[Two patients had pathogenic SMAD3 nonsense mutations consistent with type-III Loeys-Dietz syndrome and one patient had a pathogenic FBN1 mutation with subsequent confirmation of Marfan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_provenance.
- NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_assertion evidence source_evidence_literature NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_provenance.
- NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_assertion SIO_000772 26333736 NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_provenance.
- NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_assertion wasDerivedFrom befree-2016 NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_provenance.
- NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_assertion wasGeneratedBy ECO_0000203 NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1293573.RAknnJb5kKk78R6vSTtUR-Z-MMgwjOOsbUQ489MfLpnx0130_provenance.