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- source_evidence_literature type ECO_0000212 NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_provenance.
- NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_assertion description "[Notable among these are: the first crystal structure for rat CYP24A1; mutagenesis studies which change the regioselectivity of the enzyme; and the finding that natural inactivating mutations of CYP24A1 cause the genetic disease idiopathic infantile hypercalcemia (IIH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_provenance.
- NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_assertion evidence source_evidence_literature NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_provenance.
- NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_assertion SIO_000772 22100522 NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_provenance.
- NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_assertion wasDerivedFrom befree-20150227 NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_provenance.
- NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_assertion wasGeneratedBy ECO_0000203 NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP345502.RALBZJOkqPoFlZXQ_YkHpox4hz06P0kMisd9xwT6bKcEs130_provenance.