http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_head http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_provenance http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion http://identifiers.org/ncbigene/1409 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0086543 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNfad8fbcfd62c7bc8b7b66cd623ffbbb2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1409 http://rdf.disgenet.org/resource/gda/DGNfad8fbcfd62c7bc8b7b66cd623ffbbb2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0086543 http://rdf.disgenet.org/resource/gda/DGNfad8fbcfd62c7bc8b7b66cd623ffbbb2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_provenance http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion http://purl.org/dc/terms/description [R54C is the second reported recessive CRYAA mutation associated with congenital cataract and the first with described morphology.punctuate lenticular opacities in carriers and congenital total white cataract with microcornea in homozygotes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17937925 http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/lhgdn-20090331 http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/lhgdn-20090331 http://purl.org/pav/importedOn 2009-03-31 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/dc/terms/created 2016-05-13T12:43:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP230276.RANOSydFsgNsD608Kit3iipt7eW-csd0n3XzpDi_gE4TE http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0