Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes

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Bibliographic Details
Main Authors:	Vivek Appadurai, Andrea E. DeBarber, Pei-Wen Chiang, Shailendra B. Patel, Robert D. Steiner, Charles R. Tyler, Penelope E. Bonnen
Format:	Artigo
Language:	English
Published:	2015
Online Access:	https://doi.org/10.1016/j.ymgme.2015.10.010
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