Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.R432S
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SPTBN2

NM_006946.4:p.R432S

Associated Papers

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Ghorbani F et al.

Frontiers in Genetics, 2022

35401678 (PubMed )
Supplement: DataSheet1.PDF

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

Sancho P et al.

International Journal of Molecular Sciences, 2021

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

Coutelier M et al.

Brain : a Journal of Neurology, 2017

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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."