@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:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_head { this: np:hasAssertion dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_assertion; np:hasProvenance dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_provenance; np:hasPublicationInfo dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_publicationInfo; a np:Nanopublication . dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_assertion a np:Assertion . dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_provenance a np:Provenance . dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_publicationInfo a np:PublicationInfo . } dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_assertion { miriam-gene:162514 a ncit:C16612 . lld:C0037274 a ncit:C7057 . dgn-gda:DGNd38fae0b585569dfe4c2d8e067183c4a sio:SIO_000628 miriam-gene:162514, lld:C0037274; a sio:SIO_001121 . } dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_provenance { dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_assertion dcterms:description "[However, point mutations of TRPV3 at Gly573 to Ser and Cys have recently been linked to autosomal dominant hairless phenotypes and spontaneous dermatitis in mice and rats, implicating an important role for TRPV3 in alopecia and skin diseases.]. 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:17706768; 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:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_publicationInfo { this: dcterms:created "2014-10-02T12:41:08+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" . }