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- source_evidence_literature type ECO_0000212 NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_provenance.
- NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_assertion description "[In gain-of-function CaSR mutations, the genetic abnormalities increase CaSR activity leading to the development of such clinical manifestations as hypercalciuric hypocalcemia and hypoparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_provenance.
- NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_assertion evidence source_evidence_literature NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_provenance.
- NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_assertion SIO_000772 15960151 NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_provenance.
- NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_assertion wasDerivedFrom befree-2016 NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_provenance.
- NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_assertion wasGeneratedBy ECO_0000203 NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_provenance.
- befree-2016 importedOn "2016-02-19" NP499906.RAJPh-LnGafAfAKSYWgZIpbzvGsDKkzOf80q2QPtZey4I130_provenance.