http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#head http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#assertion http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#provenance http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#assertion http://rdf.disgenet.org/resource/gda/DGN78d855bc0a55e35c55bef9aa5dfc74b5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55636 http://rdf.disgenet.org/resource/gda/DGN78d855bc0a55e35c55bef9aa5dfc74b5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265354 http://rdf.disgenet.org/resource/gda/DGN78d855bc0a55e35c55bef9aa5dfc74b5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#provenance http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#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/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#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/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15300250 http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#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/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://purl.org/dc/terms/created 2017-10-17T13:18:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1335772.RAsomZDJnJuoDaNwNeip8AmL5e6j_t0cFlJWCjfw11Rlc 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