@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_head { this: np:hasAssertion dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion; np:hasProvenance dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_provenance; np:hasPublicationInfo dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_publicationInfo; a np:Nanopublication . dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion a np:Assertion . dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_provenance a np:Provenance . dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_publicationInfo a np:PublicationInfo . } dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion { miriam-gene:55238 a ncit:C16612 . lld:C0268654 a ncit:C7057 . dgn-gda:DGNfd29ef3ec1224e7fddbe1ccf5fbabc5f sio:SIO_000628 miriam-gene:55238, lld:C0268654; a sio:SIO_001121 . } dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_provenance { dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_assertion dcterms: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."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:19033659; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP663808.RAyoEmu4BHumfoXZc1hNGCs0v5_tZ3RkrAn1OX1_DnWdA130_publicationInfo { this: dcterms:created "2014-10-02T12:38:41+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }