http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_head http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_assertion http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_assertion http://identifiers.org/ncbigene/5194 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/C0043459 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#DGN6bdbec9e6e00ee80abf80f750413f595 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5194 http://rdf.disgenet.org/gene-disease-association.ttl#DGN6bdbec9e6e00ee80abf80f750413f595 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0043459 http://rdf.disgenet.org/gene-disease-association.ttl#DGN6bdbec9e6e00ee80abf80f750413f595 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_assertion http://purl.org/dc/terms/description [We now have evidence that the complete human cDNA encoding Pex13p, an SH3 protein of a docking factor for the peroxisome targeting signal 1 receptor (Pex5p), rescues peroxisomal matrix protein import and its assembly in fibroblasts from PBD patients of complementation group H. In addition, we detected mutations on the human PEX13 cDNA in two patients of group H. A severe phenotype of a ZS patient (H-02) was homozygous for a nonsense mutation, W234ter, which results in the loss of not only the SH3 domain but also the putative transmembrane domain of Pex13p.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_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#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10332040 http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_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#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_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#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://purl.org/dc/terms/created 2014-10-02T12:32:10+02:00 http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP25767.RAOzC8NNb4deFkLifSs5MXqx4j9KhZQuQ-SbJGJyEblQg 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