@prefix orcid: . @prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP29144.RAAKRYc5qmKbfX6SKGd3PahD8oE28ALhTprCQGFFcQhVI130_head { this: np:hasAssertion dgn-np:NP29144.RAAKRYc5qmKbfX6SKGd3PahD8oE28ALhTprCQGFFcQhVI130_assertion; np:hasProvenance dgn-np:NP29144.RAAKRYc5qmKbfX6SKGd3PahD8oE28ALhTprCQGFFcQhVI130_provenance; np:hasPublicationInfo dgn-np:NP29144.RAAKRYc5qmKbfX6SKGd3PahD8oE28ALhTprCQGFFcQhVI130_publicationInfo; a np:Nanopublication . dgn-np:NP29144.RAAKRYc5qmKbfX6SKGd3PahD8oE28ALhTprCQGFFcQhVI130_assertion a np:Assertion . dgn-np:NP29144.RAAKRYc5qmKbfX6SKGd3PahD8oE28ALhTprCQGFFcQhVI130_provenance a np:Provenance . dgn-np:NP29144.RAAKRYc5qmKbfX6SKGd3PahD8oE28ALhTprCQGFFcQhVI130_publicationInfo a np:PublicationInfo . } dgn-np:NP29144.RAAKRYc5qmKbfX6SKGd3PahD8oE28ALhTprCQGFFcQhVI130_assertion { miriam-gene:6329 a ncit:C16612 . lld:C0238357 a ncit:C7057 . dgn-gda:DGNa3cdae908c7d0051336be1d09e07fca2 sio:SIO_000628 miriam-gene:6329, lld:C0238357; a sio:SIO_001121 . } dgn-np:NP29144.RAAKRYc5qmKbfX6SKGd3PahD8oE28ALhTprCQGFFcQhVI130_provenance { dgn-np:NP29144.RAAKRYc5qmKbfX6SKGd3PahD8oE28ALhTprCQGFFcQhVI130_assertion dcterms:description "[The observation of a distinct mutation that cosegregates with HYPP in two families and appears as a de novo mutation in a third establishes SCN4A as the HYPP gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:1659948; prov:wasDerivedFrom dgn-void:ctd_human-20150221; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20150221 pav:importedOn "2015-02-21"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } dgn-np:NP29144.RAAKRYc5qmKbfX6SKGd3PahD8oE28ALhTprCQGFFcQhVI130_publicationInfo { this: dcterms:created "2015-08-25T14:37:56+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }