http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_head http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_provenance http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_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/gene-disease-association.ttl#DGNfd29ef3ec1224e7fddbe1ccf5fbabc5f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55238 http://rdf.disgenet.org/gene-disease-association.ttl#DGNfd29ef3ec1224e7fddbe1ccf5fbabc5f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268654 http://rdf.disgenet.org/gene-disease-association.ttl#DGNfd29ef3ec1224e7fddbe1ccf5fbabc5f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_provenance http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion http://purl.org/dc/terms/description [Both inheritance and functional studies identified the gene encoding the proton amino acid transporter SLC36A2 (PAT2) as the major gene responsible for IG in these families, and its inheritance was consistent with a classical semidominant pattern in which 2 inherited nonfunctional alleles conferred the IG phenotype, while 1 nonfunctional allele was sufficient to confer the HG phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19033659 http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/dc/terms/created 2014-10-02T12:38:41+02:00 http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0