Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion description "[Affected individuals from this kindred share an epigenetic defect that is indistinguishable from that observed in patients with AD-PHP-Ib who carry the 3-kb microdeletion in the STX16 region (i.e., an isolated loss of methylation at GNAS exon A/B).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion evidence source_evidence_literature NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion SIO_000772 15800843 NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion wasDerivedFrom befree-20140225 NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_assertion wasGeneratedBy ECO_0000203 NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP798822.RA5IwJ2Dp8GfEDZ0fbBgaoRQ9en1GzNLlOuGzDComJeYk130_provenance.