Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_assertion> ?p ?o ?g. }
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- NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_assertion type Assertion NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_head.
- NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_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." NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_provenance.
- NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_assertion evidence source_evidence_literature NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_provenance.
- NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_assertion SIO_000772 19196800 NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_provenance.
- NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_assertion wasDerivedFrom lhgdn-20090331 NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_provenance.
- NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_assertion wasGeneratedBy ECO_0000203 NP245388.RAWwRRGtN_JNuiYo0xmn-EJv-BDune2W_9C627UeT3a5A130_provenance.