Publications
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Filters: Author is Pastinen, Tomi [Clear All Filters]
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 ;146(8):3162-3171.
. Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 ;.
. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 ;110(8):1394-1413.
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