ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.
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J Clin Invest. 2019 Apr 15;129(5):2145-2162. doi: 10.1172/JCI79990. eCollection 2019 Apr 15.
J Clin Invest. 2019.
PMID: 30985297
Free PMC article.