http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#head http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#assertion http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#provenance http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#assertion http://rdf.disgenet.org/resource/gda/DGN2c6a86c956fb4507ce6cdb988cc120e7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1294 http://rdf.disgenet.org/resource/gda/DGN2c6a86c956fb4507ce6cdb988cc120e7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0079474 http://rdf.disgenet.org/resource/gda/DGN2c6a86c956fb4507ce6cdb988cc120e7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#provenance http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#assertion http://purl.org/dc/terms/description [Glycine substitution mutations in COL7A1 not only cause dominant dystrophic epidermolysis bullosa (DDEB), but can also be silent mutations which lead to recessive dystrophic epidermolysis bullosa (RDEB) in combination with additional mutations in the other allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15113589 http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/dc/terms/created 2017-10-17T13:11:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP229629.RAs1hnmCbxdPrZvGkpb6XAaVIOjFcuDTh2jPhrHdsnV3w http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0