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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom GAD provenance.
- assertion SIO_000772 14584882 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.