Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_assertion> ?p ?o ?g. }
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- NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_assertion type Assertion NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_head.
- NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_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." NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_provenance.
- NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_assertion evidence source_evidence_literature NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_provenance.
- NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_assertion SIO_000772 11201847 NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_provenance.
- NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_assertion wasDerivedFrom befree-20140225 NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_provenance.
- NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_assertion wasGeneratedBy ECO_0000203 NP815489.RA1ExG5V4pEDXwb_yN8b09_MKeavAqm6hM2E2tao3u03c130_provenance.