http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#head http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#assertion http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#provenance http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#assertion http://rdf.disgenet.org/resource/gda/DGN3d82993a2fb37209363a09761dce0ebd http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6520 http://rdf.disgenet.org/resource/gda/DGN3d82993a2fb37209363a09761dce0ebd http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0949658 http://rdf.disgenet.org/resource/gda/DGN3d82993a2fb37209363a09761dce0ebd http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#provenance http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#assertion http://purl.org/dc/terms/description [The results of molecular genetics studies have shown that familial hypertrophic cardiomyopathy is a disease of the sarcomere involving mutations in 7 different genes encoding proteins of the myofibrillar apparatus: ss-myosin heavy chain, ventricular myosin essential light chain, ventricular myosin regulatory light chain, cardiac troponin T, cardiac troponin I, alpha-tropomyosin, and cardiac myosin binding protein C. In addition to this locus heterogeneity, there is a wide allelic heterogeneity, since numerous mutations have been found in all these genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#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/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9742053 http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#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/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://purl.org/dc/terms/created 2017-10-17T13:16:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP949391.RAItSzEInToDIHqg--Bxjhio9gMMCTWEgETrZDNMs2LgU 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