Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.R698Splc
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SACS

NM_014363.6:p.R698Splc

Associated Papers

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.

Duncan EJ et al.

Human Molecular Genetics, 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."