http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#head http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#assertion http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#provenance http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#assertion http://rdf.disgenet.org/resource/gda/DGN23aafcefd436aa0aae0b200f73fc5781 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5376 http://rdf.disgenet.org/resource/gda/DGN23aafcefd436aa0aae0b200f73fc5781 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0270911 http://rdf.disgenet.org/resource/gda/DGN23aafcefd436aa0aae0b200f73fc5781 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#provenance http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#assertion http://purl.org/dc/terms/description [In this study we showed that microarray MAPH measurement of PMP22 gene dosage correlates well with PMP22 gene dosage determined by capillary MAPH and that copy number was accurately reported in analyses of DNA from 38 individuals, 12 of which were known to have Charcot-Marie-Tooth disease type 1A (CMT1A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#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/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16813644 http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#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/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://purl.org/dc/terms/created 2017-10-17T13:15:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP834796.RAFZlyhGyClmI6dsPdAfNu-VPt9rcweV6mfOqLtsm41Cc 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