Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.R426Splc
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CPOX

NM_000097.7:p.R426Splc

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

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.

Wang Y et al.

Orphanet Journal of Rare Diseases, 2024

Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.

Hasegawa K et al.

Jimd Reports, 2017

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.

Hasanoglu A et al.

Journal of Inherited Metabolic Disease, 2011

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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."