Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_assertion> ?p ?o ?g. }
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- NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_assertion type Assertion NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_head.
- NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_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." NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_provenance.
- NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_assertion evidence source_evidence_literature NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_provenance.
- NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_assertion SIO_000772 19196800 NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_provenance.
- NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_assertion wasDerivedFrom lhgdn-20090331 NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_provenance.
- NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_assertion wasGeneratedBy ECO_0000203 NP146039.RAY08lZkkVS17uB7Do51J3qN5Djz6wmBx6qAibFEgTC74130_provenance.