Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_assertion> ?p ?o ?g. }
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- NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_assertion type Assertion NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_head.
- NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_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." NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_provenance.
- NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_assertion evidence source_evidence_literature NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_provenance.
- NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_assertion SIO_000772 18628516 NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_provenance.
- NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_assertion wasDerivedFrom befree-20140225 NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_provenance.
- NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_assertion wasGeneratedBy ECO_0000203 NP554133.RA-W6SA0MvLXIsBb-MTHrWstDK8jKM0qu8-XPfBfzmQ6M130_provenance.