Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.C627del1
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SPTBN2

NM_006946.4:p.C627del1

Associated Papers

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

Sancho P et al.

International Journal of Molecular Sciences, 2021

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

Iqbal Z et al.

Plos One, 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."