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