http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_head http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion http://identifiers.org/ncbigene/5125 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/C0300948 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#DGN111c3292ffca67fe02a9dae442de34d9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5125 http://rdf.disgenet.org/gene-disease-association.ttl#DGN111c3292ffca67fe02a9dae442de34d9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0300948 http://rdf.disgenet.org/gene-disease-association.ttl#DGN111c3292ffca67fe02a9dae442de34d9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion http://purl.org/dc/terms/description [We identified nonsynonymous mutations in PCSK5 in patients with VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation OMIM 192350) and caudal regression syndrome, the phenotypic features of which resemble the mouse mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18519639 http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708 http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000218 http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708 http://purl.org/pav/2.0/importedOn 2013-07-24 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000205 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://purl.org/dc/terms/created 2014-10-02T12:32:10+02:00 http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM 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