dgn-np:NP358828.RArjktI_aiDgXLTQitoQVFshp6Vomp2OJoldKMO5nJgXc130_provenance {
dgn-np:NP358828.RArjktI_aiDgXLTQitoQVFshp6Vomp2OJoldKMO5nJgXc130_assertion dcterms:description "[Inactivating mutations leading to growth retardation in humans have been identified in several pituitary transcription factor genes (HESX1, PITX2, LHX3, PROP1, POU1F1) as well as in genes encoding the growth hormone-releasing hormone receptor (GHRH-R), the G(s) protein alpha subunit (GNAS1), growth hormone itself (GH-1), the growth hormone receptor (GHR), and in a single case each, the insulin-like growth factor I (IGF-I) and the IGF-I receptor.]. 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:12083945 ;
prov:wasDerivedFrom dgn-void:befree-2016 ;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-2016 pav:importedOn "2016-02-19"^^
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 .
}