Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_provenance.
- NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_assertion description "[Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified in patients with benign (familial) infantile convulsions (B(F)IC), infantile convulsions with choreoathetosis (ICCA) and paroxysmal dyskinesias (PDs).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_provenance.
- NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_assertion evidence source_evidence_literature NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_provenance.
- NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_assertion SIO_000772 24101679 NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_provenance.
- NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_assertion wasDerivedFrom befree-2016 NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_provenance.
- NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_assertion wasGeneratedBy ECO_0000203 NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_provenance.
- befree-2016 importedOn "2016-02-19" NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_provenance.