http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_head http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_assertion http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_provenance http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_assertion http://identifiers.org/ncbigene/55238 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/C0268654 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/DGNfd29ef3ec1224e7fddbe1ccf5fbabc5f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55238 http://rdf.disgenet.org/resource/gda/DGNfd29ef3ec1224e7fddbe1ccf5fbabc5f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268654 http://rdf.disgenet.org/resource/gda/DGNfd29ef3ec1224e7fddbe1ccf5fbabc5f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_provenance http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_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/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19033659 http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/dc/terms/created 2016-05-13T12:47:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP705685.RA4Ocfu5AQUvxIaPgi2Qw-H4M6_Ey4mpfSm44-tyLqlsc http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0