Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_provenance.
- NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_assertion description "[The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_provenance.
- NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_assertion evidence source_evidence_literature NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_provenance.
- NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_assertion SIO_000772 21426321 NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_provenance.
- NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_assertion wasDerivedFrom befree-20140225 NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_provenance.
- NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_assertion wasGeneratedBy ECO_0000203 NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_provenance.