PNPT1 mutations may cause Aicardi-Goutieres-Syndrome. Bamborschke D, Kreutzer M, Koy A, Koerber F, et al. Brain Dev 2021;43:320-324.

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Bamborschke D, Kreutzer M, Koy A, Koerber F, et al. PNPT1 mutations may cause Aicardi-Goutieres-Syndrome. Brain Dev 2021;43:320-324.
PMID: 33158637