Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_assertion> ?p ?o ?g. }
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- NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_assertion type Assertion NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_head.
- NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_assertion description "[Congenital hypothyroidism (CH) due to thyroglobulin (TG) deficit is an autosomal recessive disease (OMIM #274700) characterized by hypothyroidism, goiter, low serum TG, and a negative perchlorate discharge test.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_provenance.
- NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_assertion evidence source_evidence_literature NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_provenance.
- NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_assertion SIO_000772 23455760 NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_provenance.
- NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_assertion wasDerivedFrom befree-20150227 NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_provenance.
- NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_assertion wasGeneratedBy ECO_0000203 NP730820.RAK9W5CWPnO7nkAFvr2v7ZrJ5uip1173-bBcvDtDCnh0E130_provenance.