http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#head http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#assertion http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#provenance http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#assertion http://rdf.disgenet.org/resource/gda/DGNc1fccc684f093ec468456a8feb0255ee http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1120 http://rdf.disgenet.org/resource/gda/DGNc1fccc684f093ec468456a8feb0255ee http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1852502 http://rdf.disgenet.org/resource/gda/DGNc1fccc684f093ec468456a8feb0255ee http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#provenance http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#assertion http://purl.org/dc/terms/description [A new form of congenital muscular dystrophy (CMD) with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta (CHKB) gene defects has been characterized by intellectual disability, autistic features, ichthyosis-like skin changes, and dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#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/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26067811 http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#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/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://purl.org/dc/terms/created 2017-10-17T13:11:33+02:00 http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP214073.RADwZpnv7lhVbIN3X9XPwq9sVl81bZ-hH8D8QAUuBna60 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