http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#head http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#assertion http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#provenance http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#assertion http://rdf.disgenet.org/resource/gda/DGN9814ff97aa67147091a5162e6e52c975 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1120 http://rdf.disgenet.org/resource/gda/DGN9814ff97aa67147091a5162e6e52c975 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0699743 http://rdf.disgenet.org/resource/gda/DGN9814ff97aa67147091a5162e6e52c975 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#provenance http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#assertion http://purl.org/dc/terms/description [Since our report of CHKB mutations found in 15 cases with megaconial congenital muscular dystrophy from Japanese, Turkish, and British populations, we have further identified two British and one French patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#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/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23945283 http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#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/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://purl.org/dc/terms/created 2017-10-17T13:11:33+02:00 http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP214132.RAtrS7aJI-tV9HTZKPOPJZkPwO0JB881EpiaYdi3JGFMk 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