http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_head http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_assertion http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_provenance http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_assertion http://identifiers.org/ncbigene/1103 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/C0033377 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/DGNb30824ed51b7d4f450e223f4d9be0668 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1103 http://rdf.disgenet.org/resource/gda/DGNb30824ed51b7d4f450e223f4d9be0668 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0033377 http://rdf.disgenet.org/resource/gda/DGNb30824ed51b7d4f450e223f4d9be0668 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_provenance http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_assertion http://purl.org/dc/terms/description [We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21948486 http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/dc/terms/created 2015-08-25T14:40:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP312536.RAVutoj0Y6lJEBv8_EtVQRkkj9wQxaJ8r29PVvSmT5Ais http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0