Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP949930.RAtz9iSp_-cIs8a86x6G0o007bLgw2RepSxgo_NNU1m50#assertion> ?p ?o ?g. }
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- assertion description "[Biallelic mutations in the NIS gene lead to a congenital iodide transport defect, an autosomal recessive condition characterized by hypothyroidism, goiter, low thyroid iodide uptake, and a low saliva/plasma iodide ratio.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 19196800 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.