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Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes
Vivek Appadurai, Andrea DeBarber, Pei Wen Chiang, Shailendra B. Patel, Robert D. Steiner, Charles Tyler, Penelope E. Bonnen
Research output: Contribution to journal › Article › peer-review
72
Scopus
citations