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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SACS

Variant:p.E1814fs

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SACS

NM_014363.6:p.E1814fs

hg38:chr13:23338436 CTC>N

Associated Papers

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.

Santos M et al.

Cells, 2022

35326432 (PubMed )

Supplement: cells-11-00981-s001.zip › Table_S1.xlsx › WES_variants

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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."