http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_head http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_assertion http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_provenance http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_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/C1306503 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#DGN649d7d05960a2a662954a3cc512fb815 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5125 http://rdf.disgenet.org/gene-disease-association.ttl#DGN649d7d05960a2a662954a3cc512fb815 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1306503 http://rdf.disgenet.org/gene-disease-association.ttl#DGN649d7d05960a2a662954a3cc512fb815 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_provenance http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_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#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_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#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18519639 http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_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#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_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#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://purl.org/dc/terms/created 2014-10-02T12:32:10+02:00 http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP25534.RATVrJiRf5yWaA-3lnzZZJVbZE6ebycmhEjitBBFL-pVs 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