@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:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_head { this: np:hasAssertion dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_assertion; np:hasProvenance dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_provenance; np:hasPublicationInfo dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_publicationInfo; a np:Nanopublication . dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_assertion a np:Assertion . dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_provenance a np:Provenance . dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_assertion { miriam-gene:1294 a ncit:C16612 . lld:C0079474 a ncit:C7057 . dgn-gda:DGN9cacaecc15a80a88fe2503b594c451ca sio:SIO_000628 miriam-gene:1294, lld:C0079474; a sio:SIO_001121 . } dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_provenance { dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_assertion dcterms:description "[This finding expands the allelic series of COL7A1 mutations underlying mild recessive dystrophic epidermolysis bullosa (RDEB) and sheds further light upon regions of the type VII collagen triple helix that are tolerant of heterozygous glycine substitutions.]. 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:17229600; 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:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_publicationInfo { this: dcterms:created "2016-05-13T12:46:12+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" . }