dgn-np:NP6126.RAVPoeRD5OwDJDJliw7d_EmlYgWn4xZNL8xbioBTdQ5Lg130_provenance {
  dgn-np:NP6126.RAVPoeRD5OwDJDJliw7d_EmlYgWn4xZNL8xbioBTdQ5Lg130_assertion dc: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_curated ;
    sio:SIO_000772 miriam-pubmed:19033659 ;
    prov:wasDerivedFrom dgn-void:uniprot-20130724 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}