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- source_evidence_literature type ECO_0000212 NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion description "[Activating mutations of the Ca(2+)-sensing receptor (CaR) gene have been identified in families with autosomal dominant hypoparathyroidism and in one patient with sporadic hypoparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion evidence source_evidence_literature NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion SIO_000772 9253358 NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion wasDerivedFrom befree-2016 NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_assertion wasGeneratedBy ECO_0000203 NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1378311.RAvnL8jx4GpjC1N-zyIFdoFn48-6xC6q3CAzwhe6yJ0jk130_provenance.