Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_assertion> ?p ?o ?g. }
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- NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_assertion type Assertion NP1117077.RAcAxAqIfKdqtL_Sk7nDeW5tG5t3n6VCgHfSKG_XGMK2A130_head.
- 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.