http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#head http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#assertion http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#provenance http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#assertion http://rdf.disgenet.org/resource/gda/DGNcc0f55c4c05265e35cd932cd6358f4f3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/340024 http://rdf.disgenet.org/resource/gda/DGNcc0f55c4c05265e35cd932cd6358f4f3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268654 http://rdf.disgenet.org/resource/gda/DGNcc0f55c4c05265e35cd932cd6358f4f3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#provenance http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#assertion http://purl.org/dc/terms/description [Additional mutations were identified in the genes encoding the putative glycine transporter SLC6A18 (XT2) and the neutral amino acid transporter SLC6A19 (B0AT1) in families with either IG or HG, suggesting that mutations in the genes encoding these transporters may also contribute to these phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#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/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19033659 http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#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/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://purl.org/dc/terms/created 2017-10-17T13:19:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1426042.RAnodcWpKlCk9hHNYwovaimbfnjPz6FQSywY9Zsj_4arY 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