http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_head http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_assertion http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_assertion http://identifiers.org/ncbigene/1605 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/C2827469 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#DGN99205820734ef801a26b10db970b4560 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1605 http://rdf.disgenet.org/gene-disease-association.ttl#DGN99205820734ef801a26b10db970b4560 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2827469 http://rdf.disgenet.org/gene-disease-association.ttl#DGN99205820734ef801a26b10db970b4560 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_assertion http://purl.org/dc/terms/description [CMD biochemical types include various abnormalities of alpha-dystroglycan O-mannosyl glycosylation as well as defects in integrin matrix receptors, the extracellular matrix proteins laminin-alpha(2) and collagen VI, nuclear proteins such as lamin A/C, and a protein of the endoplasmic reticulum, selenoprotein N. Current therapies are directed mostly at supportive care; however, recent advances in biotechnology and increased knowledge of the pathophysiology underlying the various CMD types have helped identify potential therapeutic strategies directed at genetic, molecular, and biochemical pathways involved in these disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_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#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20425232 http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_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#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_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#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://purl.org/dc/terms/created 2014-10-02T12:38:36+02:00 http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk 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