@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:NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_head { this: np:hasAssertion dgn-np:NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_assertion; np:hasProvenance dgn-np:NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance; np:hasPublicationInfo dgn-np:NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_publicationInfo; a np:Nanopublication . dgn-np:NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_assertion a np:Assertion . dgn-np:NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance a np:Provenance . dgn-np:NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_publicationInfo a np:PublicationInfo . } dgn-np:NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_assertion { miriam-gene:58531 a ncit:C16612 . lld:C0021359 a ncit:C7057 . dgn-gda:DGNc3deda6734a0dd381e6e64aa451f80ea sio:SIO_000628 miriam-gene:58531, lld:C0021359; a sio:SIO_001121 . } dgn-np:NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_provenance { dgn-np:NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_assertion dcterms:description "[The novel variants that were observed only in the infertile cohort included the SNP c.65G>A mutation which resulted in an amino acid change at the codon 22 (p.Ser22Asn) in the PRM1 gene, a mutation in the promoter region of PRM2 (-67C>T) and a nonsense mutation in the PRM3 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:19602509; 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:NP561347.RAnga3HtRSLMU4JHQGeiYlNViGiDWZ7HawcQcv1YpHPxc130_publicationInfo { this: dcterms:created "2014-10-02T12:37:38+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" . }