http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#head
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#assertion
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#provenance
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#assertion
http://rdf.disgenet.org/resource/gda/DGN1e998e35b0e6823fc57f6ac826334dac
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1291
http://rdf.disgenet.org/resource/gda/DGN1e998e35b0e6823fc57f6ac826334dac
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0686353
http://rdf.disgenet.org/resource/gda/DGN1e998e35b0e6823fc57f6ac826334dac
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#provenance
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#assertion
http://purl.org/dc/terms/description
[The conditions studied were rigid spine syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, allelic disorders caused by Col6A1, Col6A2, and Col6A3 mutations, the autosomal dominant form of Emery-Dreifuss muscular dystrophy (LMNA defects) and calpain-deficient limb girdle muscular dystrophy (CAPN3 defects).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#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/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/20225280
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#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/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://purl.org/dc/terms/created
2017-10-17T13:11:39+02:00
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP229034.RACG1HECrgS5aHtUMVZMMDF_rwnVThknPKiQGi9u666LM
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