Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_provenance.
- NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_assertion description "[We identified two heterozygous KCNJ10 mutations (p.R18Q and p.V84M) in three children (two unrelated families) with seizures, ASD, and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_provenance.
- NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_assertion evidence source_evidence_literature NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_provenance.
- NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_assertion SIO_000772 21458570 NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_provenance.
- NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_assertion wasDerivedFrom befree-20140225 NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_provenance.
- NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_assertion wasGeneratedBy ECO_0000203 NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP917518.RAzvg6CFl3t_M8U15pMvOMmxCpAcX6nenmA4D1AK1TZKo130_provenance.