Varaico: Literature-Extracted Genetic Variants

Gene:CASQ1
Variant:p.G142G
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CASQ1

NM_001231.5:p.G142G

Associated Papers

Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.

Zhou F et al.

Brain and Behavior, 2025

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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."