Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_assertion> ?p ?o ?g. }
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- NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_assertion type Assertion NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_head.
- NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_assertion wasGeneratedBy ECO_0000203 NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_provenance.
- NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_assertion wasDerivedFrom befree-2016 NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_provenance.
- NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_assertion SIO_000772 24849934 NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_provenance.
- NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_assertion evidence source_evidence_literature NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_provenance.
- NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_assertion description "[We report the first patient diagnosed with ATS with a de novo c.G899C mutation in the KCNJ2 gene in 2010 who developed an autoimmune hyperthyroidism and TPP in 2013.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1184444.RAK0UXX31Eeb7SNKxc96S6lTK4mlomeTD6sAcmyflQNJk130_provenance.