@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:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_head { this: np:hasAssertion dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_assertion; np:hasProvenance dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_provenance; np:hasPublicationInfo dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_publicationInfo; a np:Nanopublication . dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_assertion a np:Assertion . dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_provenance a np:Provenance . dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_publicationInfo a np:PublicationInfo . } dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_assertion { miriam-gene:6023 a ncit:C16612 . lld:C0015544 a ncit:C7057 . dgn-gda:DGN3ee56849046a73021c2536541098f144 sio:SIO_000628 miriam-gene:6023, lld:C0015544; a sio:SIO_001121 . } dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_provenance { dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_assertion dcterms:description "[Previous reports in single CHH patients with significant immunodeficiencies have demonstrated that allogeneic hematopoietic stem cell transplantation (HSCT) is an effective treatment for the severe immunodeficiency, while growth failure remains unaffected.]. 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:20375313; 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:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_publicationInfo { this: dcterms:created "2014-10-02T12:38:28+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" . }