http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#head http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#assertion http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#provenance http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#assertion http://rdf.disgenet.org/resource/gda/DGNa161d491ff9ade40825bb91917cb6e1a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/64324 http://rdf.disgenet.org/resource/gda/DGNa161d491ff9ade40825bb91917cb6e1a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0175695 http://rdf.disgenet.org/resource/gda/DGNa161d491ff9ade40825bb91917cb6e1a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#provenance http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#assertion http://purl.org/dc/terms/description [We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35.3 in the immediate vicinity of critical NSD1 gene, but manifesting the phenotype, of overgrowth both prenatal stage and postnatal, macrocephaly, developmental delay, and resembling that of Sotos syndrome, rather than the recently reported syndrome of reciprocal duplication.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#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/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21998857 http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#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/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://purl.org/dc/terms/created 2017-10-17T13:18:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1361947.RAlYi2ulS_Q0heK0nW1yN4SsBT8l3vIVfIBQpOu064U6k 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