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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease gne myopathy
Comorbidity C0029401|paget\'s disease
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PubMedID- 21249466 Mutations in the vcp gene including r93, r155, and r191 have been described that manifest clinically as hereditary inclusion body myopathy with paget's disease of bone and frontotemporal dementia.

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