Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.T472T
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SPTBN2

NM_006946.4:p.T472T

Associated Papers

A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat.

Cho E et al.

Cerebellum (london, England), 2013

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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."