@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:NP875763.RA_njr871KtdRTH8uB6t3CPVoLAUXqMUpYR4MJBaNvaR4130_head { this: np:hasAssertion dgn-np:NP875763.RA_njr871KtdRTH8uB6t3CPVoLAUXqMUpYR4MJBaNvaR4130_assertion; np:hasProvenance dgn-np:NP875763.RA_njr871KtdRTH8uB6t3CPVoLAUXqMUpYR4MJBaNvaR4130_provenance; np:hasPublicationInfo dgn-np:NP875763.RA_njr871KtdRTH8uB6t3CPVoLAUXqMUpYR4MJBaNvaR4130_publicationInfo; a np:Nanopublication . dgn-np:NP875763.RA_njr871KtdRTH8uB6t3CPVoLAUXqMUpYR4MJBaNvaR4130_assertion a np:Assertion . dgn-np:NP875763.RA_njr871KtdRTH8uB6t3CPVoLAUXqMUpYR4MJBaNvaR4130_provenance a np:Provenance . dgn-np:NP875763.RA_njr871KtdRTH8uB6t3CPVoLAUXqMUpYR4MJBaNvaR4130_publicationInfo a np:PublicationInfo . } dgn-np:NP875763.RA_njr871KtdRTH8uB6t3CPVoLAUXqMUpYR4MJBaNvaR4130_assertion { miriam-gene:1896 a ncit:C16612 . lld:C0003028 a ncit:C7057 . dgn-gda:DGN4aed01ee8c5c794f199388f8661ff1f8 sio:SIO_000628 miriam-gene:1896, lld:C0003028; a sio:SIO_001121 . } dgn-np:NP875763.RA_njr871KtdRTH8uB6t3CPVoLAUXqMUpYR4MJBaNvaR4130_provenance { dgn-np:NP875763.RA_njr871KtdRTH8uB6t3CPVoLAUXqMUpYR4MJBaNvaR4130_assertion dcterms:description "[Among 26 different EDA genotypes, specific mutations were shown to be consistently associated with anhidrosis, implying that systematic mapping of EDA mutations together with the analysis of objective clinical data may help to distinguish functionally crucial mutations from those allowing residual activity of the gene product.]. 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:21357618; 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:NP875763.RA_njr871KtdRTH8uB6t3CPVoLAUXqMUpYR4MJBaNvaR4130_publicationInfo { this: dcterms:created "2016-05-13T12:48:21+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" . }