Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_assertion> ?p ?o ?g. }
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- NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_assertion type Assertion NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_head.
- NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_assertion description "[A novel heterozygous germline mutation (ATG --> GTG; Met463Val) was identified in the second membrane spanning TSHR region in 6 relatives with thyrotoxicosis and goiter and absence of TSHR antibodies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_provenance.
- NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_assertion evidence source_evidence_literature NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_provenance.
- NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_assertion SIO_000772 11201847 NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_provenance.
- NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_assertion wasDerivedFrom befree-2016 NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_provenance.
- NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_assertion wasGeneratedBy ECO_0000203 NP308258.RAPcfwf3cSbx86uc543oVJcAd-C55xjDvjC4K7TOXGMSw130_provenance.