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- source_evidence_literature type ECO_0000212 NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_provenance.
- gad-20150221 importedOn "2015-02-21" NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_provenance.
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- NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_assertion wasDerivedFrom gad-20150221 NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_provenance.
- NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_assertion SIO_000772 14584882 NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_provenance.
- NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_assertion evidence source_evidence_literature NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_provenance.
- NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_assertion description "[ In 56 of 94 patients with a classical picture of ARO, TCIRG1-dependent recessive mutations were found. In contrast, ClCN7 mutations were found in 12 cases (13%) of severe osteopetrosis, but only 7 of them had two recessive mutations identified: in 6 of t]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP82347.RAhAijx-arZ1fz67ZzCOOnjRYTI2mPyzXxBN3PcRaOLQI130_provenance.