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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M., Ruiter, Jos P. N., van Lint, Alida E. M., Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen SacotoJournal:
Genetics in Medicine
DOI:
10.1038/s41436-020-01027-3
Date:
November, 2020
File:
PDF, 1.02 MB
2020