Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP447037.RAWBtM8xLo7kIKjcXaDt8tlOIeXRc0GQX6LTpHiNXuXx0#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 19829694 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Mutations that lead to loss of function of the protein and to haploinsufficiency cause GCPS, while truncating mutations that result in constitutive repressor function of GLI3 lead to PHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.