Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_provenance.
- NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_assertion wasGeneratedBy ECO_0000203 NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_provenance.
- NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_assertion wasDerivedFrom befree-20140225 NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_provenance.
- NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_assertion SIO_000772 12022040 NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_provenance.
- NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_assertion evidence source_evidence_literature NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_provenance.
- NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_assertion description "[Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP446889.RAzLmrUfHA3YT4VU2SRVaWIk5GuHD5He372S1ZupHsLSY130_provenance.