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Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) ..:

Kapás, I. ; Katkó, M. ; Harangi, M....
Neuropathology and Applied Neurobiology.  40 (2014)  3 - p. 345-350 , 2014
Link: https://doi.org/10.1111/nan.12058