http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#head http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#provenance http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion http://rdf.disgenet.org/resource/gda/DGNebe520303459783d823c8eb31f32398e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5080 http://rdf.disgenet.org/resource/gda/DGNebe520303459783d823c8eb31f32398e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1853230 http://rdf.disgenet.org/resource/gda/DGNebe520303459783d823c8eb31f32398e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#provenance http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion http://purl.org/dc/terms/description [While A/M has been reported as a rare feature, this is the first report of congenital primary aphakia in association with PAX6 and the identified allele represents the first variant in the PAX6 homeodomain to be associated with A/M.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26130484 http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/dc/terms/created 2017-10-17T13:15:12+02:00 http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0