Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.L288W
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CPOX

NM_000097.7:p.L288W

Associated Papers

Preimplantation diagnosis and embryo selection in a patient with severe hereditary coproporphyria.

Kristono GA et al.

The New Zealand Medical Journal, 2024

High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria.

Towns C et al.

Jimd Reports, 2022

Systemic Lupus Erythematosus and Hereditary Coproporphyria: Two Different Entities Diagnosed by WES in the Same Patient.

Liu A et al.

Biomed Research International, 2022

A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp).

Lambie D et al.

Annals of Clinical Biochemistry, 2018

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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."