http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_head http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_assertion http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_provenance http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_assertion http://identifiers.org/ncbigene/1308 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/C0014527 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/DGN286a4d00ee9da015ad24fe8b194fddd5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1308 http://rdf.disgenet.org/resource/gda/DGN286a4d00ee9da015ad24fe8b194fddd5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014527 http://rdf.disgenet.org/resource/gda/DGN286a4d00ee9da015ad24fe8b194fddd5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_provenance http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_assertion http://purl.org/dc/terms/description [The homozygous nonsense mutations in the COL17A1 gene were consistent with the absence of the collagen from the skin and with the GABEB phenotype, whereas homozygosity for the missense mutation resulted in expression of aberrant collagen XVII and, clinically, in localisata JEB.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_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/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9199555 http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_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/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://purl.org/dc/terms/created 2015-08-25T14:40:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc 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