Varaico: Literature-Extracted Genetic Variants

Gene:CIC
Variant:p.R282W
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CIC

NM_001386298.1:p.R282W

Associated Papers

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Pop A et al.

Journal of Inherited Metabolic Disease, 2018

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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."