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- source_evidence_literature type ECO_0000212 NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_provenance.
- NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_assertion description "[Patients with the CDKL5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_provenance.
- NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_assertion evidence source_evidence_literature NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_provenance.
- NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_assertion SIO_000772 16326141 NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_provenance.
- NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_assertion wasDerivedFrom befree-2016 NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_provenance.
- NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_assertion wasGeneratedBy ECO_0000203 NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_provenance.
- befree-2016 importedOn "2016-02-19" NP525288.RAQBgGP9xCk1BvoTEEvaRuEliozKvmRJU-NVH73GwMbRw130_provenance.