Varaico: Literature-Extracted Genetic Variants

Gene:RBM5
Variant:p.Y791C
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RBM5

NM_005778.4:p.Y791C

Associated Papers

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

Hengel H et al.

Brain : a Journal of Neurology, 2025

40166812 (PubMed )
Supplement: awaf111_supplementary_data.zip › brain-2024-02058-File008.pdf
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