Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_provenance.
- NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_assertion description "[Either GRIN2B or GRIN2A, encoding the NMDA receptor subunits NR2B and NR2A, was found to be disrupted by chromosome translocation breakpoints in individuals with mental retardation and/or epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_provenance.
- NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_assertion evidence source_evidence_curated NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_provenance.
- NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_assertion SIO_000772 20890276 NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_provenance.
- NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_assertion wasDerivedFrom ctd_human-20130708 NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_provenance.
- NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_assertion wasGeneratedBy ECO_0000218 NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP17286.RAhvXP8H9ciM8Kd74aWmYn3Ayo7z7YvIMUixPuvfTNI4c130_provenance.