Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.Y429fs
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CPOX

NM_000097.7:p.Y429fs

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

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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."