Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
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Sanderson LE, et al. Among authors: owaidah tm.
Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459.
Brain. 2021.
PMID: 33764426
Free PMC article.