http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#head
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#assertion
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#provenance
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#assertion
http://rdf.disgenet.org/resource/gda/DGN590ae272a84d268bc0b95a009ea19ec8
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1291
http://rdf.disgenet.org/resource/gda/DGN590ae272a84d268bc0b95a009ea19ec8
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0410179
http://rdf.disgenet.org/resource/gda/DGN590ae272a84d268bc0b95a009ea19ec8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#provenance
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#assertion
http://purl.org/dc/terms/description
[A molecular study, performed by Pan et al. at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#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/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16258657
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#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/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://purl.org/dc/terms/created
2017-10-17T13:11:39+02:00
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP229016.RA7aNEao2Hek3Rf2ngu-F8T6GW5aaGFMQ2AGXXpNWdhvM
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