http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_head http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_assertion http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_provenance http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_assertion http://identifiers.org/ncbigene/1760 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/C0026848 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/resource/gda/DGNc46e1292396855d155fd6e0cfae1a959 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1760 http://rdf.disgenet.org/resource/gda/DGNc46e1292396855d155fd6e0cfae1a959 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026848 http://rdf.disgenet.org/resource/gda/DGNc46e1292396855d155fd6e0cfae1a959 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_provenance http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_assertion http://purl.org/dc/terms/description [The complex, multisystemic phenotype may reflect an underlying multifaceted molecular pathophysiology: the facial dysmorphology may be due to pattern defects caused by haploinsufficiency of the homeobox gene, while the muscle disease and endocrine abnormalities may be due to both altered RNA metabolism and deficiency of the cAMP DMPK protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9490778 http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/dc/terms/created 2016-05-13T12:52:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1389980.RAPBQZ8A6hDcZr_yR6TVlVshhK0oo49lHjlvUdb_5Q3fE http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0