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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 8112288 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[This is based on analysis of the dominant negative effects of ClC-1 mutations causing myotonia congenita (MC, Thomsen's disease), including a newly identified mutation (P480L) in Thomsen's own family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.