Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_provenance.
- NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_assertion description "[The identification of a novel SCN2A mutation in a family with infantile seizures with onset between 6 and 8 months provides further confirmation that this gene is not specifically associated with BFNIS and is also involved in families with a delayed age of onset.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_provenance.
- NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_assertion evidence source_evidence_literature NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_provenance.
- NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_assertion SIO_000772 23360469 NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_provenance.
- NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_assertion wasDerivedFrom befree-2016 NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_provenance.
- NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_assertion wasGeneratedBy ECO_0000203 NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1048205.RAbcoQrKu0L_MgBqNEb_oJAPduEy5mJV-DCX6rlobRiZY130_provenance.