Varaico: Literature-Extracted Genetic Variants

Gene:RUBCN
Variant:p.Q360*
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RUBCN

NM_014687.4:p.Q360*

Associated Papers

Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.

Michon CC et al.

Journal of Inherited Metabolic Disease, 2015

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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."