http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#head http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#assertion http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#provenance http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#assertion http://rdf.disgenet.org/resource/gda/DGN0c503e81134324a30f98e890761c3998 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1326 http://rdf.disgenet.org/resource/gda/DGN0c503e81134324a30f98e890761c3998 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1850808 http://rdf.disgenet.org/resource/gda/DGN0c503e81134324a30f98e890761c3998 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#provenance http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#assertion http://purl.org/dc/terms/description [In this study we have: (1) detected recombination events with the disease locus in one family, placing the MM gene most likely between markers D2S443 (CHLC.GGAA4D07.1876) and D2S2109; (2) generated a yeast artificial chromosome contig that spans approximately 3.8 megabases and extends from marker D2S358 to marker D2S286; (3) physically mapped 21 polymorphic markers, 5 genes, 3 STSs, and 1 EST within this contig; (4) detected and mapped a new polymorphism within this interval, allowing us to further reduce the MM locus to a 360-kilobase segment; (5) mapped the gene for the cytoskeletal protein beta-adducin within the MM candidate region, failing to find a consistent pattern of mutation of this gene in our MM patients; (6) excluded seven other candidate myopathy genes from the Miyoshi locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#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/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10737122 http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#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/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://purl.org/dc/terms/created 2017-10-17T13:11:41+02:00 http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP234628.RAPXi31rgLjEKSb1cqKHEijHrLPX0GhxBOhLWtplz6SwE 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