Varaico: Literature-Extracted Genetic Variants

Gene:RAB3A
Variant:p.E189*
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RAB3A

NM_002866.5:p.E189*

Associated Papers

Expanding the clinical spectrum of RAB3A: from cerebellar ataxia to spastic paraplegia.

Mouraux C et al.

Brain : a Journal of Neurology, 2025

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

Hengel H et al.

Brain : a Journal of Neurology, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."