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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Academic Journal
Vaz, Frederic M.; McDermott, John H.; Alders, Marielle; Wortmann, Saskia B.; Koelker, Stefan; Pras-Raves, Mia L.; Vervaart, Martin A. T.; van Lenthe, Henk; Luyf, Angela C. M.; Elfrink, Hyung L.; Metcalfe, Kay; Cuvertino, Sara; Clayton, Peter E.; Yarwood, Rebecca; Lowe, Martin P.; Lovell, Simon; Rogers, Richard C.; van Kampen, Antoine H. C.; Ruiter, Jos P. N.; Wanders, Ronald J. A.; Ferdinandusse, Sacha; van Weeghel, Michel; Engelen, Marc; Banka, Siddharth; Deciphering Dev Disorders Study
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[AR] Lowe, Martin P.
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