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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STUB1

Variant:p.P247_S248delFs

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STUB1

NM_005861.4:p.P247_S248delFs

hg38:chr16:682235 CCA>C

Associated Papers

Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.

Nanetti L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

36799493 (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."