Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_provenance.
- NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_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." NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_provenance.
- NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_assertion evidence source_evidence_literature NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_provenance.
- NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_assertion SIO_000772 18628516 NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_provenance.
- NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_assertion wasDerivedFrom befree-20150227 NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_provenance.
- NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_assertion wasGeneratedBy ECO_0000203 NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP806395.RA1KNxm-PDK6p5-nmnsEw6BJ_zDsAnqXL5RsfQ3Y0fQxA130_provenance.