Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1127152.RAeG_5G1SwwV3FBXElsaf1dIPaEHn8j1GjLWVGN_VYps0#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 9590296 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.