Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_assertion type Assertion NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_head.
- NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_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." NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_provenance.
- NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_assertion evidence source_evidence_literature NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_provenance.
- NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_assertion SIO_000772 19196800 NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_provenance.
- NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_assertion wasDerivedFrom befree-20150227 NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_provenance.
- NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_assertion wasGeneratedBy ECO_0000203 NP697713.RA8Tf_mZefaNHVOQa6xWbM5x4_p0cdMz-5EmNtNHyLGhc130_provenance.