Varaico: Literature-Extracted Genetic Variants

Gene:CLPB
Variant:p.R590C
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CLPB

NM_001258392.3:p.R590C

Associated Papers

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

Heath O et al.

Molecular Genetics and Metabolism, 2026

CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.

Mróz D et al.

Journal of Inherited Metabolic Disease, 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."