Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.T62N
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SPTBN2

NM_006946.4:p.T62N

Associated Papers

Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in β-III-Spectrin.

Atang AE et al.

Cells, 2023

Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in β-III-spectrin.

Atang AE et al.

Biorxiv : the Preprint Server for Biology, 2023

Expanding the Landscape of Spinocerebellar Ataxia Type 5.

Benevides ML et al.

Neuropediatrics, 2022

Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.

Romaniello R et al.

Annals of Clinical and Translational Neurology, 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."