Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.F515L
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SPTBN2

NM_006946.4:p.F515L

Associated Papers

Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrin.

Denha SA et al.

Biorxiv : the Preprint Server for Biology, 2024

Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy.

Spagnoli C et al.

Cerebellum (london, England), 2021

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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."