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    Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation

    Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation by Karan M. Desai, Piyush Kumar, Parthvi S. Ravat, Sangeeta H. Ravat, Neeraj Jain, Shruti Agrawal, Rahil Ansari

    Published 2021-01-01
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