@prefix dcterms: . @prefix orcid: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP379.RAG7fN_fbw4Brm6fG_GqlCwcdoGwHgfe6rjY2msymWef8130_head { this: np:hasAssertion dgn-np:NP379.RAG7fN_fbw4Brm6fG_GqlCwcdoGwHgfe6rjY2msymWef8130_assertion; np:hasProvenance dgn-np:NP379.RAG7fN_fbw4Brm6fG_GqlCwcdoGwHgfe6rjY2msymWef8130_provenance; np:hasPublicationInfo dgn-np:NP379.RAG7fN_fbw4Brm6fG_GqlCwcdoGwHgfe6rjY2msymWef8130_publicationInfo; a np:Nanopublication . dgn-np:NP379.RAG7fN_fbw4Brm6fG_GqlCwcdoGwHgfe6rjY2msymWef8130_assertion a np:Assertion . dgn-np:NP379.RAG7fN_fbw4Brm6fG_GqlCwcdoGwHgfe6rjY2msymWef8130_provenance a np:Provenance . dgn-np:NP379.RAG7fN_fbw4Brm6fG_GqlCwcdoGwHgfe6rjY2msymWef8130_publicationInfo a np:PublicationInfo . } dgn-np:NP379.RAG7fN_fbw4Brm6fG_GqlCwcdoGwHgfe6rjY2msymWef8130_assertion { miriam-gene:11081 a ncit:C16612 . lld:C1857574 a ncit:C7057 . dgn-gda:DGN1ad4214cfd66c5f1158b5699e4bbd673 sio:SIO_000628 miriam-gene:11081, lld:C1857574; a sio:SIO_001122 . } dgn-np:NP379.RAG7fN_fbw4Brm6fG_GqlCwcdoGwHgfe6rjY2msymWef8130_provenance { dgn-np:NP379.RAG7fN_fbw4Brm6fG_GqlCwcdoGwHgfe6rjY2msymWef8130_assertion dcterms:description "[Linkage was sought to polymorphic microsatellite markers distributed around the CNA2 and microphthalmia loci (arCMIC, adCMIC, NNO1, and CHX10) using PCR and nondenaturing polyacrylamide gel electrophoresis before KERA was directly sequenced for mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:11726611; prov:wasDerivedFrom dgn-void:uniprot-20150221; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-20150221 pav:importedOn "2015-02-21"^^xsd:date . } dgn-np:NP379.RAG7fN_fbw4Brm6fG_GqlCwcdoGwHgfe6rjY2msymWef8130_publicationInfo { this: dcterms:created "2015-08-25T14:37:42+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }