Varaico: Literature-Extracted Genetic Variants

Gene:CPO
Variant:p.P328S
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CPO

NM_173077.3:p.P328S

Associated Papers

Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.

Wiman A et al.

Journal of Human Genetics, 2002

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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."