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Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

Hengel H, Hannan SB, Reich S, Beijer D, Roller J, Gilsbach BK, Gloeckner CJ, Greene D, Timmann D, Depienne C, Mumford A, O'Driscoll M, Nemeth AH, Lundberg J, Rodan LH, Bruel AL, Delanne J, Deconinck T, Baets J, Gan-Or Z, Rouleau G, Suchowersky O, Estiar MA, Reich S, Toro C, Z?chner S, Hazan J, P?tursson H, Harmuth F, Bauer C, Bauer P, Turro E, Lambright D, Sch?ls L, Synofzik M. Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. Brain. 2025 Aug 01; 148(8):2812-2826.

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