Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_provenance.
- NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_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." NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_provenance.
- NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_assertion evidence source_evidence_literature NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_provenance.
- NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_assertion SIO_000772 7920658 NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_provenance.
- NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_assertion wasDerivedFrom befree-20150227 NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_provenance.
- NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_assertion wasGeneratedBy ECO_0000203 NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP760771.RAQ2gygq79LMiyXA0V7npnX_g2VU7TczI_dYQ3FVCmLoY130_provenance.