Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_assertion> ?p ?o ?g. }
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- NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_assertion type Assertion NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_head.
- NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_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." NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_provenance.
- NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_assertion evidence source_evidence_literature NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_provenance.
- NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_assertion SIO_000772 11201847 NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_provenance.
- NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_assertion wasDerivedFrom befree-20150227 NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_provenance.
- NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_assertion wasGeneratedBy ECO_0000203 NP423590.RA-vglQyaTBKcAO-_zn4adVAaaCO6Q_F8TTg78Tr7BeEw130_provenance.