Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.H295R
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CPOX

NM_000097.7:p.H295R

Associated Papers

Primary adrenal insufficiency in patients with CPOX gene mutations.

Kelestemur E et al.

European Journal of Endocrinology, 2025

Mitotane alters mitochondrial respiratory chain activity by inducing cytochrome c oxidase defect in human adrenocortical cells.

Hescot S et al.

Endocrine-related Cancer, 2013

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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."