@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:NP48595.RAPDAqYQcQIMi9_WTN6rxp8PDDqMubdqar_QY0ZwiQgpI130_head { this: np:hasAssertion dgn-np:NP48595.RAPDAqYQcQIMi9_WTN6rxp8PDDqMubdqar_QY0ZwiQgpI130_assertion; np:hasProvenance dgn-np:NP48595.RAPDAqYQcQIMi9_WTN6rxp8PDDqMubdqar_QY0ZwiQgpI130_provenance; np:hasPublicationInfo dgn-np:NP48595.RAPDAqYQcQIMi9_WTN6rxp8PDDqMubdqar_QY0ZwiQgpI130_publicationInfo; a np:Nanopublication . dgn-np:NP48595.RAPDAqYQcQIMi9_WTN6rxp8PDDqMubdqar_QY0ZwiQgpI130_assertion a np:Assertion . dgn-np:NP48595.RAPDAqYQcQIMi9_WTN6rxp8PDDqMubdqar_QY0ZwiQgpI130_provenance a np:Provenance . dgn-np:NP48595.RAPDAqYQcQIMi9_WTN6rxp8PDDqMubdqar_QY0ZwiQgpI130_publicationInfo a np:PublicationInfo . } dgn-np:NP48595.RAPDAqYQcQIMi9_WTN6rxp8PDDqMubdqar_QY0ZwiQgpI130_assertion { miriam-gene:249 a ncit:C16612 . lld:C0020630 a ncit:C7057 . dgn-gda:DGN7351e843cdbd1f72f217dac02271f70b sio:SIO_000628 miriam-gene:249, lld:C0020630; a sio:SIO_001122 . } dgn-np:NP48595.RAPDAqYQcQIMi9_WTN6rxp8PDDqMubdqar_QY0ZwiQgpI130_provenance { dgn-np:NP48595.RAPDAqYQcQIMi9_WTN6rxp8PDDqMubdqar_QY0ZwiQgpI130_assertion dcterms:description "[A total of 22 Japanese patients with hypophosphatasia were included in a study analysing the relationship between mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and the severity of the phenotype in Japanese patients with hypophosphatasia.]. 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:15660230; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP48595.RAPDAqYQcQIMi9_WTN6rxp8PDDqMubdqar_QY0ZwiQgpI130_publicationInfo { this: dcterms:created "2014-10-02T12:32:22+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" . }