Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_provenance.
- NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_assertion description "[Here we present two additional patients with severe MR, autism spectrum disorder and epilepsy, carrying a very small deletion encompassing the MEF2C gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_provenance.
- NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_assertion evidence source_evidence_curated NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_provenance.
- NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_assertion SIO_000772 20412115 NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_provenance.
- NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_assertion wasDerivedFrom ctd_human-20130708 NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_provenance.
- NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_assertion wasGeneratedBy ECO_0000218 NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP22376.RAa_mwgJW6L2ANo4ZwjrAvaHKSW1a75j1BNSz1mUqdGeM130_provenance.