http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#head
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#assertion
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#provenance
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#assertion
http://rdf.disgenet.org/resource/gda/DGN3860cf0ab39377c18491f98ea67c9a65
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2737
http://rdf.disgenet.org/resource/gda/DGN3860cf0ab39377c18491f98ea67c9a65
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0265306
http://rdf.disgenet.org/resource/gda/DGN3860cf0ab39377c18491f98ea67c9a65
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#provenance
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#assertion
http://purl.org/dc/terms/description
[We conclude that patients with GCPS caused by large deletions that include GLI3 are likely to have cognitive deficits, and we hypothesize that this severe GCPS phenotype is caused by deletion of contiguous genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/14608643
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/CTD_human
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v5.0.0/void/CTD_human
http://purl.org/pav/importedOn
2017-01-25
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000205
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://purl.org/dc/terms/created
2017-10-17T13:13:01+02:00
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP447096.RAMObbfuT_4PnsYGaV0wPR2e5qJczQbDRKCEiXPx-CfVY
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