Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_provenance.
- NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_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." NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_provenance.
- NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_assertion evidence source_evidence_curated NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_provenance.
- NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_assertion SIO_000772 20890276 NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_provenance.
- NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_assertion wasDerivedFrom uniprot-20130724 NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_provenance.
- NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_assertion wasGeneratedBy ECO_0000218 NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP2920.RAR7GIuPkBp7p94qR_-R8YGWCGkOYSXNTbDBCR6Ed-XD4130_provenance.