Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.E55_L56insFs
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PPOX

NM_001122764.3:p.E55_L56insFs

Associated Papers

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

Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.

Lam H et al.

Human Genetics, 1997

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."