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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 15563506 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.