@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:NP709303.RA4on-D7o6wSd9ExWftyosT_8VbS1d9vgPSYMbj2S6AyA130_head { this: np:hasAssertion dgn-np:NP709303.RA4on-D7o6wSd9ExWftyosT_8VbS1d9vgPSYMbj2S6AyA130_assertion; np:hasProvenance dgn-np:NP709303.RA4on-D7o6wSd9ExWftyosT_8VbS1d9vgPSYMbj2S6AyA130_provenance; np:hasPublicationInfo dgn-np:NP709303.RA4on-D7o6wSd9ExWftyosT_8VbS1d9vgPSYMbj2S6AyA130_publicationInfo; a np:Nanopublication . dgn-np:NP709303.RA4on-D7o6wSd9ExWftyosT_8VbS1d9vgPSYMbj2S6AyA130_assertion a np:Assertion . dgn-np:NP709303.RA4on-D7o6wSd9ExWftyosT_8VbS1d9vgPSYMbj2S6AyA130_provenance a np:Provenance . dgn-np:NP709303.RA4on-D7o6wSd9ExWftyosT_8VbS1d9vgPSYMbj2S6AyA130_publicationInfo a np:PublicationInfo . } dgn-np:NP709303.RA4on-D7o6wSd9ExWftyosT_8VbS1d9vgPSYMbj2S6AyA130_assertion { miriam-gene:80144 a ncit:C16612 . lld:C0265233 a ncit:C7057 . dgn-gda:DGNe1c8f28324c9b79e1b50bb9bf9b21b34 sio:SIO_000628 miriam-gene:80144, lld:C0265233; a sio:SIO_001121 . } dgn-np:NP709303.RA4on-D7o6wSd9ExWftyosT_8VbS1d9vgPSYMbj2S6AyA130_provenance { dgn-np:NP709303.RA4on-D7o6wSd9ExWftyosT_8VbS1d9vgPSYMbj2S6AyA130_assertion dcterms:description "[The milder phenotypes associated with FREM1 deficiency in humans (MOTA syndrome and BNAR syndrome) compared to that resulting from FRAS1 and FREM2 loss of function (Fraser syndrome) are also consistent with the less severe phenotypes resulting from Frem1 loss of function in mice.]. 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:21507892; 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:NP709303.RA4on-D7o6wSd9ExWftyosT_8VbS1d9vgPSYMbj2S6AyA130_publicationInfo { this: dcterms:created "2014-10-02T12:39:11+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" . }