Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_provenance.
- NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_assertion description "[The degree of functional impairment of channels incorporating KCNQ3 R330L subunits was larger than that of channels carrying another KCNQ3 mutation affecting the same codon but leading to a different amino acid substitution (p.R330C), previously identified in two families with typical BFNS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_provenance.
- NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_assertion evidence source_evidence_literature NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_provenance.
- NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_assertion SIO_000772 25524373 NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_provenance.
- NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_assertion wasDerivedFrom befree-2016 NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_provenance.
- NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_assertion wasGeneratedBy ECO_0000203 NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1249438.RAkYrOq3Nfw5vV1UZ2syQIJEvZeXVTl0w5XJZ6H4uLJO0130_provenance.