Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.P341insFs
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PPOX

NM_001122764.3:p.P341insFs

Associated Papers

Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.

Morgan RR et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2002

Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.

Frank J et al.

The Journal of Investigative Dermatology, 1998

Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.

Frank J et al.

The Journal of Investigative Dermatology, 1998

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.

Deybach JC et al.

Human Molecular Genetics, 1996

Variegate porphyria: past, present and future.

Frank J et al.

Skin Pharmacology and Applied Skin Physiology, 0

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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."