@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:NP866942.RAMK3vjp_P_gdjm0D5Q98N0DoHgaPFfqgvn31n4NqWH-A130_head { this: np:hasAssertion dgn-np:NP866942.RAMK3vjp_P_gdjm0D5Q98N0DoHgaPFfqgvn31n4NqWH-A130_assertion; np:hasProvenance dgn-np:NP866942.RAMK3vjp_P_gdjm0D5Q98N0DoHgaPFfqgvn31n4NqWH-A130_provenance; np:hasPublicationInfo dgn-np:NP866942.RAMK3vjp_P_gdjm0D5Q98N0DoHgaPFfqgvn31n4NqWH-A130_publicationInfo; a np:Nanopublication . dgn-np:NP866942.RAMK3vjp_P_gdjm0D5Q98N0DoHgaPFfqgvn31n4NqWH-A130_assertion a np:Assertion . dgn-np:NP866942.RAMK3vjp_P_gdjm0D5Q98N0DoHgaPFfqgvn31n4NqWH-A130_provenance a np:Provenance . dgn-np:NP866942.RAMK3vjp_P_gdjm0D5Q98N0DoHgaPFfqgvn31n4NqWH-A130_publicationInfo a np:PublicationInfo . } dgn-np:NP866942.RAMK3vjp_P_gdjm0D5Q98N0DoHgaPFfqgvn31n4NqWH-A130_assertion { miriam-gene:9856 a ncit:C16612 . lld:C0410174 a ncit:C7057 . dgn-gda:DGNdd9cb08ca160849aab47b16fb6efb8f3 sio:SIO_000628 miriam-gene:9856, lld:C0410174; a sio:SIO_001121 . } dgn-np:NP866942.RAMK3vjp_P_gdjm0D5Q98N0DoHgaPFfqgvn31n4NqWH-A130_provenance { dgn-np:NP866942.RAMK3vjp_P_gdjm0D5Q98N0DoHgaPFfqgvn31n4NqWH-A130_assertion dcterms:description "[Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakness, and neuronal migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:16570239; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP866942.RAMK3vjp_P_gdjm0D5Q98N0DoHgaPFfqgvn31n4NqWH-A130_publicationInfo { this: dcterms:created "2014-10-02T12:40:50+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }