http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_head http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_assertion http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_provenance http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_assertion http://identifiers.org/ncbigene/10044 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/DGN018890d9bdb809ad831c2431a877302f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10044 http://rdf.disgenet.org/resource/gda/DGN018890d9bdb809ad831c2431a877302f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0033377 http://rdf.disgenet.org/resource/gda/DGN018890d9bdb809ad831c2431a877302f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_provenance http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_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/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_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/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21948486 http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_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/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://purl.org/dc/terms/created 2015-08-25T14:46:07+02:00 http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP835355.RAF_3X0RawNRhwZePeJP4W82YozUoYcfrrFGdMj-JNgFo 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