Varaico: Literature-Extracted Genetic Variants

Gene:SCO1
Variant:p.L142V
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SCO1

NM_004589.4:p.L142V

Associated Papers

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Barbato A et al.

Endocrine Connections, 2024

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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."