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- source_evidence_literature type ECO_0000212 NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_provenance.
- NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_assertion description "[Autosomal dominant hypocalcemia (ADH) caused by activating mutations of calcium-sensing receptor (CaSR) is characterized by hypocalcemia with inappropriately low concentration of PTH and relative hypercalciuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_provenance.
- NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_assertion evidence source_evidence_literature NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_provenance.
- NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_assertion SIO_000772 12733714 NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_provenance.
- NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_assertion wasDerivedFrom befree-2016 NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_provenance.
- NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_assertion wasGeneratedBy ECO_0000203 NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_provenance.
- befree-2016 importedOn "2016-02-19" NP393399.RAZm6EE9dhheNpCLMq6BYuhAbyaI_CGJfeEJ73KqEBppo130_provenance.