http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_head http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_assertion http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_provenance http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_assertion http://identifiers.org/ncbigene/24 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/C0730294 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#DGN58160bd699a945f8d9ceedc87e03982d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/24 http://rdf.disgenet.org/gene-disease-association.ttl#DGN58160bd699a945f8d9ceedc87e03982d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0730294 http://rdf.disgenet.org/gene-disease-association.ttl#DGN58160bd699a945f8d9ceedc87e03982d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_provenance http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_assertion http://purl.org/dc/terms/description [We have therefore assessed the entire coding region of IMPG1 by exon amplification and subsequent single stranded conformational analysis in patients from 6q linked multigeneration families diagnosed with PBCRA and MCDR1, as well as a single patient from an autosomal dominant STGD pedigree unlinked to either of the two known STGD2 and STGD3 loci on chromosomes 13q and 6q, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_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#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9719369 http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_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#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_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#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://purl.org/dc/terms/created 2014-10-02T12:38:22+02:00 http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP633988.RA7O_c1CgcT57LAkm0Su4j8wJZbSRNp3sGlYlpCEDt754 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