http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_head http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion http://identifiers.org/ncbigene/7273 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C1838244 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN230973c4c048900e9a2cbfef874371f4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7273 http://rdf.disgenet.org/gene-disease-association.ttl#DGN230973c4c048900e9a2cbfef874371f4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1838244 http://rdf.disgenet.org/gene-disease-association.ttl#DGN230973c4c048900e9a2cbfef874371f4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion http://purl.org/dc/terms/description [Then, since the introduction of a proline in the last domain of titin was previously known to cause TMD in French families, we can conclude that this missense mutation is the obvious pathogenetic mutation in the affected patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19911250 http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/dc/terms/created 2014-10-02T12:39:44+02:00 http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0