Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP1326997.RAnRQa4l52ruFi8e2ug1Glz6MFDBdv1syH6EcKdqw5J_Q130_provenance.