http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#head http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#assertion http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#provenance http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#assertion http://rdf.disgenet.org/resource/gda/DGN4802888f26104bb074c6ee95068ae89e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1545 http://rdf.disgenet.org/resource/gda/DGN4802888f26104bb074c6ee95068ae89e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2981140 http://rdf.disgenet.org/resource/gda/DGN4802888f26104bb074c6ee95068ae89e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#provenance http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#assertion http://purl.org/dc/terms/description [This work emphasizes the genetic heterogeneity of juvenile glaucoma and suggests, for the first time, that (1) congenital glaucoma and juvenile glaucoma are allelic variants and (2) the spectrum of expression of MYOC and CYP1B1 mutations is greater than expected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#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/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11774072 http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#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/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://purl.org/dc/terms/created 2017-10-17T13:11:52+02:00 http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP263015.RA0qLXBuXVppJINObjxOE1rxmWK4MJFl3pX5w0x2JDs6k 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