http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#head http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#assertion http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#provenance http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#assertion http://rdf.disgenet.org/resource/gda/DGN750dcf8b790091972bf48b81848d405d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55636 http://rdf.disgenet.org/resource/gda/DGN750dcf8b790091972bf48b81848d405d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265354 http://rdf.disgenet.org/resource/gda/DGN750dcf8b790091972bf48b81848d405d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#provenance http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#assertion http://purl.org/dc/terms/description [Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#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/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15300250 http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/UNIPROT 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/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://purl.org/dc/terms/created 2017-10-17T13:18:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1335737.RAbiRjlz75ktHYVUPOWQSQzJlLrQafEcpNWaj91whisf0 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