Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_provenance.
- 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.
- befree-20140225 importedOn "2014-02-25" NP533675.RAr4Q97y7VBHUPJAET1NbhQrG1XYaQWH9V2RCxK8N4DW4130_provenance.