@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:NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_head { this: np:hasAssertion dgn-np:NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_assertion; np:hasProvenance dgn-np:NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_provenance; np:hasPublicationInfo dgn-np:NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_publicationInfo; a np:Nanopublication . dgn-np:NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_assertion a np:Assertion . dgn-np:NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_provenance a np:Provenance . dgn-np:NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_publicationInfo a np:PublicationInfo . } dgn-np:NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_assertion { miriam-gene:6606 a ncit:C16612 . lld:C0026847 a ncit:C7057 . dgn-gda:DGNda36b5c90b6f9e021dfa5a33e6485b16 sio:SIO_000628 miriam-gene:6606, lld:C0026847; a sio:SIO_001121 . } dgn-np:NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_provenance { dgn-np:NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_assertion dcterms:description "[The molecular analysis of the survival motor neuron (SMN) gene and several closely flanking polymorphic markers in an atypical pedigree with four patients suffering from spinal muscular atrophy (SMA) over two generations has raised new aspects concerning the etiology and the molecular spectrum of autosomal recessive SMA.]. 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:9341891; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1382466.RAWP5JL-99_Fkf01DBtzOw-mDJXP0vRKTHbEeEO7v9c5w130_publicationInfo { this: dcterms:created "2016-05-13T12:52:12+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }