http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_head http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_assertion http://identifiers.org/ncbigene/64324 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/C0221355 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#DGN837b13e0c5d9c496b7f15dc74dcd4aab http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/64324 http://rdf.disgenet.org/gene-disease-association.ttl#DGN837b13e0c5d9c496b7f15dc74dcd4aab http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0221355 http://rdf.disgenet.org/gene-disease-association.ttl#DGN837b13e0c5d9c496b7f15dc74dcd4aab http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_assertion http://purl.org/dc/terms/description [In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified overgrowth/mental retardation, and six patients with macrocephaly/mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_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#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14571271 http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_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#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_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#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://purl.org/dc/terms/created 2014-10-02T12:38:32+02:00 http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP651811.RAKS-9rU4JTd3fJJKbpfQAYwEEaaWniZ8u6pIHu_fYxX8 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