http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_head http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_assertion http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_provenance http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_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/C0024115 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#DGNebab387b187791f027619ac0341ce720 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5125 http://rdf.disgenet.org/gene-disease-association.ttl#DGNebab387b187791f027619ac0341ce720 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0024115 http://rdf.disgenet.org/gene-disease-association.ttl#DGNebab387b187791f027619ac0341ce720 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_provenance http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_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#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_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#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18519639 http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_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#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_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#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://purl.org/dc/terms/created 2014-10-02T12:32:10+02:00 http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP25538.RA0bDxdTL-bnPM41aIQm_Ov8GLU8J-4FPgltso9VHzD-o 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