http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#head
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#assertion
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#provenance
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#assertion
http://rdf.disgenet.org/resource/gda/DGN2ee66ff3c3cc2f9cff4c6e0ee7ae9d8f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5554
http://rdf.disgenet.org/resource/gda/DGN2ee66ff3c3cc2f9cff4c6e0ee7ae9d8f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0007194
http://rdf.disgenet.org/resource/gda/DGN2ee66ff3c3cc2f9cff4c6e0ee7ae9d8f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#provenance
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#assertion
http://purl.org/dc/terms/description
[Four were missense mutations; eight defects (insertions, deletions, and splice mutations) were predicted to truncate cardiac myosin-binding protein C. The clinical expression of either missense or truncation mutations was similar to that observed for other genetic causes of hypertrophic cardiomyopathy, but the age at onset of the disease differed markedly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#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/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9562578
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#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/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://purl.org/dc/terms/created
2017-10-17T13:15:36+02:00
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP849650.RAJaLJw2QNIr7k3g24UwsFaEy2CP-NaKKA8S6BRlSKcqs
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