Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_provenance.
- NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_assertion wasGeneratedBy ECO_0000203 NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_provenance.
- NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_assertion wasDerivedFrom befree-2016 NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_provenance.
- NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_assertion SIO_000772 9268105 NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_provenance.
- NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_assertion evidence source_evidence_literature NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_provenance.
- NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_assertion description "[Interestingly, a missense mutation in an XHC family predicting the Val768Ile change in the second fibronectin type III domain of L1CAM was found not only in the two affected cousins and their obligate carrier mothers but also in two unaffected male relatives of the patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1379187.RAPh2RNJdpMbmc3gRJKXTdVrBRMm3npk1uYhBV-hxgpjY130_provenance.