Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_provenance.
- NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_assertion description "[Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_provenance.
- NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_assertion evidence source_evidence_literature NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_provenance.
- NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_assertion SIO_000772 17641262 NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_provenance.
- NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_assertion wasDerivedFrom befree-2016 NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_provenance.
- NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_assertion wasGeneratedBy ECO_0000203 NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_provenance.
- befree-2016 importedOn "2016-02-19" NP621049.RA6_EgIrsBilcuXy0NhrxKjO4QJcpO-GTtpPx7S8FYNSs130_provenance.