@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:NP899432.RAsPMF2bPh56gpEd04-LqSfjs60y4J64q8ejElRyDQwQ4130_head { this: np:hasAssertion dgn-np:NP899432.RAsPMF2bPh56gpEd04-LqSfjs60y4J64q8ejElRyDQwQ4130_assertion; np:hasProvenance dgn-np:NP899432.RAsPMF2bPh56gpEd04-LqSfjs60y4J64q8ejElRyDQwQ4130_provenance; np:hasPublicationInfo dgn-np:NP899432.RAsPMF2bPh56gpEd04-LqSfjs60y4J64q8ejElRyDQwQ4130_publicationInfo; a np:Nanopublication . dgn-np:NP899432.RAsPMF2bPh56gpEd04-LqSfjs60y4J64q8ejElRyDQwQ4130_assertion a np:Assertion . dgn-np:NP899432.RAsPMF2bPh56gpEd04-LqSfjs60y4J64q8ejElRyDQwQ4130_provenance a np:Provenance . dgn-np:NP899432.RAsPMF2bPh56gpEd04-LqSfjs60y4J64q8ejElRyDQwQ4130_publicationInfo a np:PublicationInfo . } dgn-np:NP899432.RAsPMF2bPh56gpEd04-LqSfjs60y4J64q8ejElRyDQwQ4130_assertion { miriam-gene:3887 a ncit:C16612 . lld:C0546966 a ncit:C7057 . dgn-gda:DGN5631c76ab69a10605940faed272e6de4 sio:SIO_000628 miriam-gene:3887, lld:C0546966; a sio:SIO_001121 . } dgn-np:NP899432.RAsPMF2bPh56gpEd04-LqSfjs60y4J64q8ejElRyDQwQ4130_provenance { dgn-np:NP899432.RAsPMF2bPh56gpEd04-LqSfjs60y4J64q8ejElRyDQwQ4130_assertion dcterms:description "[The autosomal dominant form of monilethrix is caused by mutations in the basic hair keratin genes KRT81, KRT83 or KRT86, while the autosomal recessive form results from mutations in the desmoglein 4 (DSG4) gene.]. 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:21495994; 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:NP899432.RAsPMF2bPh56gpEd04-LqSfjs60y4J64q8ejElRyDQwQ4130_publicationInfo { this: dcterms:created "2014-10-02T12:41:12+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" . }