Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_assertion> ?p ?o ?g. }
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- NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_assertion type Assertion NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_head.
- NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_assertion description "[We report two different mutations in the TSHR gene of affected members of two large pedigrees with non-autoimmune autosomal dominant hyperthyroidism (toxic thyroid hyperplasia), that involve residues in the third (Val509Ala) and seventh (Cys672Tyr) transmembrane segments.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_provenance.
- NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_assertion evidence source_evidence_literature NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_provenance.
- NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_assertion SIO_000772 7920658 NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_provenance.
- NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_assertion wasDerivedFrom befree-2016 NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_provenance.
- NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_assertion wasGeneratedBy ECO_0000203 NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_provenance.