http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_head
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_assertion
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_provenance
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_assertion
http://identifiers.org/ncbigene/4208
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/C0432072
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/DGN02f6915383893b2b0fe3e6b1183db3fa
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4208
http://rdf.disgenet.org/resource/gda/DGN02f6915383893b2b0fe3e6b1183db3fa
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0432072
http://rdf.disgenet.org/resource/gda/DGN02f6915383893b2b0fe3e6b1183db3fa
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_provenance
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_assertion
http://purl.org/dc/terms/description
[In case 1, CMA revealed an approximately 140 kb deletion encompassing the first three exons of MEF2C in a 3-year-old patient with severe psychomotor retardation, periodic tremor, and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_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/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/20333642
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_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/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://purl.org/dc/terms/created
2016-05-13T12:47:48+02:00
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc
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