@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:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_head { this: np:hasAssertion dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_assertion; np:hasProvenance dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_provenance; np:hasPublicationInfo dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_publicationInfo; a np:Nanopublication . dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_assertion a np:Assertion . dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_provenance a np:Provenance . dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_publicationInfo a np:PublicationInfo . } dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_assertion { miriam-gene:4935 a ncit:C16612 . lld:C0001916 a ncit:C7057 . dgn-gda:DGNafb3ced1af46dd9071b8f030e577fb16 sio:SIO_000628 miriam-gene:4935, lld:C0001916; a sio:SIO_001121 . } dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_provenance { dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_assertion dcterms:description "[We hypothesise that macular hypoplasia in all forms of albinism depends on the extracellular DOPA level during embryogenesis, and that in OA1 postnatal normalisation of the extracellular DOPA level due to delayed distribution and membrane budding/fusion of melanosomes in melanocytes results in increasing pigmentation.]. 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:11520764; 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:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_publicationInfo { this: dcterms:created "2014-10-02T12:33:59+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" . }