http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_head http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_assertion http://identifiers.org/ncbigene/7045 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/C1837974 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/gene-disease-association.ttl#DGN560135542fc9bc16c03548b532eb2061 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7045 http://rdf.disgenet.org/gene-disease-association.ttl#DGN560135542fc9bc16c03548b532eb2061 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1837974 http://rdf.disgenet.org/gene-disease-association.ttl#DGN560135542fc9bc16c03548b532eb2061 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_assertion http://purl.org/dc/terms/description [In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I), Avellino corneal dystrophy (ACD), lattice corneal dystrophy type I (LCD I), and lattice corneal dystrophy type IIIA (LCD IIIA), and in total, seven disease-causing mutations, namely R555W, A546D, A546T, and T538P mutations in exon 12, R124H and R124C mutations in exon 4, and P501T mutation in exon 11, were identified, while four polymorphisms of V327V, L472L, F540F, and 1665-1666insC were screened in exons 8, 11, and 12.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21462384 http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/dc/terms/created 2014-10-02T12:40:30+02:00 http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP833208.RA5mYnq0Bs9XBnsdBhHEUUgV7x2VgD-MISvB4cVR8DPU8 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0