http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_head
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_assertion
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_provenance
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_assertion
http://identifiers.org/ncbigene/762
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/C0035334
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/resource/gda/DGN7ae5f4332f99eedb651d3d40a6d764b4
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/762
http://rdf.disgenet.org/resource/gda/DGN7ae5f4332f99eedb651d3d40a6d764b4
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0035334
http://rdf.disgenet.org/resource/gda/DGN7ae5f4332f99eedb651d3d40a6d764b4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_provenance
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_assertion
http://purl.org/dc/terms/description
[In collaboration with scientists at the University of Cape Town (Rondebosch, South Africa), we recently showed that the R14W mutation in the signal sequence of CA IV, which they identified in patients with the retinitis pigmentosa (RP) 17 form of autosomal dominant RP, results in accumulation of unfolded protein in the endoplasmic reticulum (ER), leading to ER stress, the unfolded protein response, and apoptosis in a large fraction of transfected COS-7 cells expressing mutant, but not wild-type, CA IV.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15295099
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations inferred from text-mining the literature.
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/dc/terms/created
2015-08-25T14:40:17+02:00
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP276538.RAcuEI7FMRtd4U3QQAoy9KjfTe1FiTeg9oEMmVMf3-XE0
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0