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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTBN2

Variant:p.A492T

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SPTBN2

NM_006946.4:p.A492T

hg38:chr11:66707695 C>T

Associated Papers

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.

Radziwonik W et al.

Journal of Applied Genetics, 2022

35588347 (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."