@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:NP1208842.RAkjgB0hFtg8eL7l-uwvSNZH-KtW8VSbWSMTYtxcY_FLM130_head { this: np:hasAssertion dgn-np:NP1208842.RAkjgB0hFtg8eL7l-uwvSNZH-KtW8VSbWSMTYtxcY_FLM130_assertion; np:hasProvenance dgn-np:NP1208842.RAkjgB0hFtg8eL7l-uwvSNZH-KtW8VSbWSMTYtxcY_FLM130_provenance; np:hasPublicationInfo dgn-np:NP1208842.RAkjgB0hFtg8eL7l-uwvSNZH-KtW8VSbWSMTYtxcY_FLM130_publicationInfo; a np:Nanopublication . dgn-np:NP1208842.RAkjgB0hFtg8eL7l-uwvSNZH-KtW8VSbWSMTYtxcY_FLM130_assertion a np:Assertion . dgn-np:NP1208842.RAkjgB0hFtg8eL7l-uwvSNZH-KtW8VSbWSMTYtxcY_FLM130_provenance a np:Provenance . dgn-np:NP1208842.RAkjgB0hFtg8eL7l-uwvSNZH-KtW8VSbWSMTYtxcY_FLM130_publicationInfo a np:PublicationInfo . } dgn-np:NP1208842.RAkjgB0hFtg8eL7l-uwvSNZH-KtW8VSbWSMTYtxcY_FLM130_assertion { miriam-gene:21 a ncit:C16612 . lld:C0206062 a ncit:C7057 . dgn-gda:DGNa0326b67220bb9a9f472577ab9ffa64f sio:SIO_000628 miriam-gene:21, lld:C0206062; a sio:SIO_001122 . } dgn-np:NP1208842.RAkjgB0hFtg8eL7l-uwvSNZH-KtW8VSbWSMTYtxcY_FLM130_provenance { dgn-np:NP1208842.RAkjgB0hFtg8eL7l-uwvSNZH-KtW8VSbWSMTYtxcY_FLM130_assertion dcterms:description "[Genetic variations considered responsible were detected in six (67%) of the nine infants with ILD: three with hPAP (SFTPC p.Leu45Arg and p.Gln145fs, and ABCA3 p.Arg1583Trp/p.Val1495CysfsX21), two with interstitial pneumonitis (SFTPC p.Lys63Glu and p.Ser72Asn/p.Gly100Ala), and one with ACD/MPV (FOXF1 p.Leu300ArgfsX79).]. 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:25105258; 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:NP1208842.RAkjgB0hFtg8eL7l-uwvSNZH-KtW8VSbWSMTYtxcY_FLM130_publicationInfo { this: dcterms:created "2016-05-13T12:50:53+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" . }