http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_head http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_assertion http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_provenance http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_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/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_provenance http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_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/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17937925 http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/lhgdn-20090331 http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/lhgdn-20090331 http://purl.org/pav/importedOn 2009-03-31 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/dc/terms/created 2015-08-25T14:39:33+02:00 http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP198488.RAw_Fc2sTZZtCPuEmxQKujGNWenLvC8lr9-lx8ht0XpVc http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0