Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_assertion> ?p ?o ?g. }
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- NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_assertion type Assertion NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_head.
- NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_assertion description "[After the description of the first family affected with loss-of-function (LOF) TSHR mutations in 1995, there is now evidence that TSH resistance is a disease with a broad range of expressivity going from severe congenital hypothyroidism (CH) with thyroid hypoplasia to mild hyperthyrotropinemia (hyperTSH) associated with an apparent euthyroid state.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_provenance.
- NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_assertion evidence source_evidence_literature NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_provenance.
- NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_assertion SIO_000772 20083154 NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_provenance.
- NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_assertion wasDerivedFrom befree-20140225 NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_provenance.
- NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_assertion wasGeneratedBy ECO_0000203 NP335568.RADBKuCRZo4s-HIFKkhIfMqnT6FxYgVVk5FtSGUKGi8tU130_provenance.