Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_assertion> ?p ?o ?g. }
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- NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_assertion type Assertion NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_head.
- NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_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." NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_provenance.
- NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_assertion evidence source_evidence_literature NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_provenance.
- NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_assertion SIO_000772 19196800 NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_provenance.
- NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_assertion wasDerivedFrom lhgdn-20090331 NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_provenance.
- NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_assertion wasGeneratedBy ECO_0000203 NP141132.RAcXlkZjR6D9kmi9qS3tN2y744XeJBumeQrKl2NnrzuqY130_provenance.