http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#head http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#assertion http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#provenance http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#assertion http://rdf.disgenet.org/resource/gda/DGN3a8cf0a1f7d7bd8b7cc6e6f94db288d8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1415 http://rdf.disgenet.org/resource/gda/DGN3a8cf0a1f7d7bd8b7cc6e6f94db288d8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0086543 http://rdf.disgenet.org/resource/gda/DGN3a8cf0a1f7d7bd8b7cc6e6f94db288d8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#provenance http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#assertion http://purl.org/dc/terms/description [Our finding expands the spectrum of cataract phenotypes caused by the Q155X mutation of CRYBB2, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the congenital cataract formation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#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/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16179907 http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/LHGDN http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/LHGDN http://purl.org/pav/importedOn 2009-03-31 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/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://purl.org/dc/terms/created 2017-10-17T13:11:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP244378.RAd72K2hi-7IVgpSnXocO0BZxZ-PzTgQSNVlGzfJxAzSU 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