Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1180062.RAGf3UzvaBC2jiOPoaop2pXaUBC6R2f-HGkBzT6IEgx18#assertion> ?p ?o ?g. }
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- assertion description "[This patient has a novel GPR56 mutation (R271X) and an unusual phenotype, because he presents hot water epilepsy.To the best of our knowledge, this is the first reported case of BFPP evolving hot water epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25642806 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.