http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#head http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#assertion http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#provenance http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#assertion http://rdf.disgenet.org/resource/gda/DGN39c49f39f1097e7999b48c3fcfe5c482 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5309 http://rdf.disgenet.org/resource/gda/DGN39c49f39f1097e7999b48c3fcfe5c482 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009691 http://rdf.disgenet.org/resource/gda/DGN39c49f39f1097e7999b48c3fcfe5c482 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#provenance http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#assertion http://purl.org/dc/terms/description [Human patients with point mutations in PITX3 demonstrate congenital cataracts along with anterior segment defects in some cases when one allele is affected and microphthalmia with brain malformations when both copies are mutated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#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/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17888164 http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#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/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://purl.org/dc/terms/created 2017-10-17T13:15:26+02:00 http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP824130.RAnLHLNRW8oTT4yWiR8kl_Wscx5K_1OGBXJjBBiZhf3Wc 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