http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_head http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_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/C0431943 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#DGNbd69ad7641e6b06a8178162d431845ee http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5125 http://rdf.disgenet.org/gene-disease-association.ttl#DGNbd69ad7641e6b06a8178162d431845ee http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0431943 http://rdf.disgenet.org/gene-disease-association.ttl#DGNbd69ad7641e6b06a8178162d431845ee http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_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#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_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#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18519639 http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_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#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_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#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://purl.org/dc/terms/created 2014-10-02T12:32:10+02:00 http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP25537.RATPPDab_GEcIjKwH9kMCG8-Jdq83vnptUwWP9Xo3AlhI 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