Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.P361delFs
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PPOX

NM_001122764.3:p.P361delFs

Associated Papers

Molecular analysis of 19 Spanish patients with mixed porphyrias.

Borrero Corte MJ et al.

European Journal of Medical Genetics, 2019

A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.

Frank J et al.

The Journal of Investigative Dermatology, 2001

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.

Whatley SD et al.

American Journal of Human Genetics, 1999

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

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."