Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.T271I
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SPTBN2

NM_006946.4:p.T271I

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

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

Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.

Rea G et al.

Cerebellum (london, England), 2020

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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."