Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_assertion> ?p ?o ?g. }
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- NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_assertion type Assertion NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_head.
- NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_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." NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_provenance.
- NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_assertion evidence source_evidence_literature NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_provenance.
- NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_assertion SIO_000772 9486973 NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_provenance.
- NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_assertion wasDerivedFrom befree-20150227 NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_provenance.
- NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_assertion wasGeneratedBy ECO_0000203 NP697535.RAAFsWkG9u6gbMxCFjdTrRpN8-FhdflsLjWI8jJ7x5wsY130_provenance.