Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_assertion type Assertion NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_head.
- NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_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." NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_provenance.
- NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_assertion evidence source_evidence_literature NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_provenance.
- NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_assertion SIO_000772 19196800 NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_provenance.
- NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_assertion wasDerivedFrom befree-20140225 NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_provenance.
- NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_assertion wasGeneratedBy ECO_0000203 NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_provenance.