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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTBN2

Variant:p.E443_N444insFs

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SPTBN2

NM_006946.4:p.E443_N444insFs

hg38:chr11:66708162 C>CT

Associated Papers

Spinocerebellar ataxia type 11 (SCA11): An update.

Gong Z et al.

The European Journal of Neuroscience, 2023

37329117 (PubMed )

Spinocerebellar ataxias (SCAs) caused by common mutations.

Müller U

Neurogenetics, 2021

34401960 (PubMed )

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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."