Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_assertion> ?p ?o ?g. }
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- NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_assertion type Assertion NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_head.
- NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_assertion description "[Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_provenance.
- NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_assertion evidence source_evidence_literature NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_provenance.
- NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_assertion SIO_000772 9486973 NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_provenance.
- NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_assertion wasDerivedFrom befree-20140225 NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_provenance.
- NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_assertion wasGeneratedBy ECO_0000203 NP347928.RAProZxcoalOUWkXkgFpajZS7AsTthzYGYxZv1iYN73Ww130_provenance.