http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_head
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_assertion
http://identifiers.org/ncbigene/3388
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/C0175693
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/resource/gda/DGN47e1546b2cd1697ed8b36b7207fa44a6
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3388
http://rdf.disgenet.org/resource/gda/DGN47e1546b2cd1697ed8b36b7207fa44a6
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0175693
http://rdf.disgenet.org/resource/gda/DGN47e1546b2cd1697ed8b36b7207fa44a6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_assertion
http://purl.org/dc/terms/description
[This report supports the hypothesis that the trans-duplication of the maternal copy of ICR1 alone is sufficient for the clinical manifestation of SRS and demonstrates the usefulness of combining aCGH with karyotyping and FISH for detecting cryptic genomic imbalances.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23225375
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/dc/terms/created
2016-05-13T12:49:34+02:00
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1034741.RAB4w92al0npwra1WgSXrGLCFmfb6GHnVj-xqm7DmoMd0
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0