Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_assertion> ?p ?o ?g. }
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- NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_assertion type Assertion NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_head.
- NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_assertion wasGeneratedBy ECO_0000203 NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_provenance.
- NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_assertion wasDerivedFrom befree-2016 NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_provenance.
- NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_assertion SIO_000772 25146893 NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_provenance.
- NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_assertion evidence source_evidence_literature NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_provenance.
- NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_assertion description "[Loss of function mutations in TSHR, PAX8, NKX2.1, NKX2.5 and FOXE1 genes are responsible for some forms of inherited congenital hypothyroidism, with or without hypoplastic thyroid.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1212725.RA5GwhP5FXH3OCKLFzA_IJzPUw1QA2C6tV9P_8FenQnUE130_provenance.