http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#head http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#assertion http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#provenance http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#assertion http://rdf.disgenet.org/resource/gda/DGN51cf9c783393e0e254528fe3ebe3bb78 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4208 http://rdf.disgenet.org/resource/gda/DGN51cf9c783393e0e254528fe3ebe3bb78 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0432072 http://rdf.disgenet.org/resource/gda/DGN51cf9c783393e0e254528fe3ebe3bb78 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#provenance http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#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/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#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/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20333642 http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#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/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://purl.org/dc/terms/created 2017-10-17T13:14:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP677479.RAVVLHEKddNmQ7byK5dpiinbmR5hDQRd-7sz7SksSJ4AU 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