http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#head http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#assertion http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#provenance http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#assertion http://rdf.disgenet.org/resource/gda/DGNf27f91817c977c004f8348aae219ad9e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1293 http://rdf.disgenet.org/resource/gda/DGNf27f91817c977c004f8348aae219ad9e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1834674 http://rdf.disgenet.org/resource/gda/DGNf27f91817c977c004f8348aae219ad9e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#provenance http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#assertion http://purl.org/dc/terms/description [Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#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/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16141002 http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#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/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://purl.org/dc/terms/created 2017-10-17T13:11:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP229209.RAtDAXZ7zNfKWEGbMNUn9TN-gvwqL6MBZ1_HMZQ097VxY 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