http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#head http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#assertion http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#provenance http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#assertion http://rdf.disgenet.org/resource/gda/DGN289fbce2a1ed646daeceac747fa30ece http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/85358 http://rdf.disgenet.org/resource/gda/DGN289fbce2a1ed646daeceac747fa30ece http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1853490 http://rdf.disgenet.org/resource/gda/DGN289fbce2a1ed646daeceac747fa30ece http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#provenance http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#assertion http://purl.org/dc/terms/description [This study suggests that the haploinsufficiency of genes in the 22q13 region beside SHANK3 contributes to cognitive and speech development, and that these genes are involved in the phenotype associated with the larger Phelan-McDermid syndrome 22q13 deletions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#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/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24700646 http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#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/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://purl.org/dc/terms/created 2017-10-17T13:19:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1388625.RAK4BMwUQGUcMQvhpu6-_3XfZGYG830pj3sKQS26ZtmvE 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