Article

Environment-dependent landscapes of coding variant impacts on coproporphyrinogen oxidase

2026-07-03

Abstract excerpt

<h4>ABSTRACT</h4> Hereditary coproporphyria (HCP) — caused by variants in coproporphyrinogen oxidase ( CPOX ) — can be diagnosed via genome sequencing. However, 74% of clinically-reported CPOX missense variants are classified as variants of uncertain significance (VUS) due to lack of evidence. CPOX variant classification is further complicated by environment-dependence: For example, the CPOX variant p.Asn272Hi...

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Literature Corpus work: fa018c14-d192-5108-b170-735de8fea974
DOI: 10.64898/2026.07.02.735896

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