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- source_evidence_literature type ECO_0000212 NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_provenance.
- NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_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." NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_provenance.
- NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_assertion evidence source_evidence_literature NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_provenance.
- NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_assertion SIO_000772 22100522 NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_provenance.
- NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_assertion wasDerivedFrom befree-20140225 NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_provenance.
- NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_assertion wasGeneratedBy ECO_0000203 NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_provenance.
- befree-20140225 importedOn "2014-02-25" NP342254.RABFb9jk4jFuPknkYX7m_s8BUj40dbulmIeNw2lXnxC4Q130_provenance.