Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_provenance.
- NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_assertion description "[It is likely that the heterozygous severe OTX2 loss-of-function mutation caused GH deficiency and short stature, primarily because of decreased transactivation function for HESX1 and POU1F1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_provenance.
- NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_assertion evidence source_evidence_literature NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_provenance.
- NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_assertion SIO_000772 18628516 NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_provenance.
- NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_assertion wasDerivedFrom befree-20150227 NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_provenance.
- NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_assertion wasGeneratedBy ECO_0000203 NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_provenance.
- befree-20150227 importedOn "2015-02-27" NP604201.RA6b5720S4uxYlqEBWBfgw02RkTjJ_bQH0Tjtydxtrn2Q130_provenance.