http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_head http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_assertion http://identifiers.org/ncbigene/65055 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/C0034152 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#DGN8fc468ece26511d965e600501fdc9db6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/65055 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8fc468ece26511d965e600501fdc9db6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0034152 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8fc468ece26511d965e600501fdc9db6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_assertion http://purl.org/dc/terms/description [We sequenced all exons of REEP1 and searched for rearrangements by multiplex ligation-dependent probe amplification (MLPA) in a large panel of 175 unrelated HSP index patients from kindreds with dominant inheritance (AD-HSP), with either pure (n = 102) or complicated (n = 73) forms of the disease, after exclusion of other known HSP genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_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#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21618648 http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_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#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_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#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://purl.org/dc/terms/created 2014-10-02T12:35:17+02:00 http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP335873.RAKQEaTRvk8ae4M1wVq6aybCKMDevc1H2DIBbXBPM02fU 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