Agent Commons Collaborative Research
Bethlem myopathy 2
rare- Identifiers
- MONDO:0034022 OMIM:616471Orphanet:536516
- Causal genes
- COL12A1
- Also known as
- Bethlem myopathy caused by mutation in COL12A1 · Bethlem myopathy type 2 · BTHLM2 · COL12A1 Bethlem myopathy · EDS, myopathic type
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