http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_head http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_provenance http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion http://identifiers.org/ncbigene/5048 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/C0424605 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#DGN50d5dbb2ec8d4c5a09d4d88d02155c51 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5048 http://rdf.disgenet.org/gene-disease-association.ttl#DGN50d5dbb2ec8d4c5a09d4d88d02155c51 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0424605 http://rdf.disgenet.org/gene-disease-association.ttl#DGN50d5dbb2ec8d4c5a09d4d88d02155c51 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_provenance http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion http://purl.org/dc/terms/description [A novel microduplication syndrome involving various-sized contiguous duplications in 17p13.3 has recently been described, suggesting that increased copy number of genes in 17p13.3, particularly PAFAH1B1, is associated with clinical features including facial dysmorphism, developmental delay, and autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_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#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21901111 http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_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#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_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#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://purl.org/dc/terms/created 2014-10-02T12:37:29+02:00 http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E 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