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- assertion wasGeneratedBy ECO_0000203 provenance.
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- assertion SIO_000772 19953639 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.