http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#head http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#assertion http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#provenance http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#assertion http://rdf.disgenet.org/resource/gda/DGN6bef65e17644bb8113beb20d98950aad http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5048 http://rdf.disgenet.org/resource/gda/DGN6bef65e17644bb8113beb20d98950aad http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0431375 http://rdf.disgenet.org/resource/gda/DGN6bef65e17644bb8113beb20d98950aad http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#provenance http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#assertion http://purl.org/dc/terms/description [We compared the phenotype, especially brain imaging studies, in a series of 48 children with lissencephaly, including 12 with Miller-Dieker syndrome (MDS), which is associated with large deletions of LIS1 and other genes in the region, 24 with isolated lissencephaly sequence caused by smaller LIS1 deletions or mutations, and 12 with isolated lissencephaly sequence caused by XLIS mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#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/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10430413 http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#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/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://purl.org/dc/terms/created 2017-10-17T13:15:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP781682.RA4nIQHebuzSo_VcDEknmnhNPJtuYDs2jly-a5Ki2f0iQ 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