Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.R426*
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CPOX

NM_000097.7:p.R426*

Associated Papers

Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD.

Honda M et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Molecular analysis of 19 Spanish patients with mixed porphyrias.

Borrero Corte MJ et al.

European Journal of Medical Genetics, 2019

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

To-Figueras J et al.

Molecular Genetics and Metabolism, 2005

Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.

Lamoril J et al.

American Journal of Human Genetics, 2001

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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."