Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_assertion type Assertion NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_head.
- NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_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." NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_provenance.
- NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_assertion evidence source_evidence_literature NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_provenance.
- NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_assertion SIO_000772 18628516 NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_provenance.
- NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_assertion wasDerivedFrom befree-20140225 NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_provenance.
- NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_assertion wasGeneratedBy ECO_0000203 NP442152.RAvU3Yx6chrI-IK4hsnIrFhKJA2cACauWkb98X3Pm0KjE130_provenance.