Varaico: Literature-Extracted Genetic Variants

Gene:CPO
Variant:p.K98M
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CPO

NM_173077.3:p.K98M

Associated Papers

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

Schmitt C et al.

Human Molecular Genetics, 2005

Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.

Lamoril J et al.

American Journal of Human Genetics, 2001

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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."