Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.G40E
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PPOX

NM_001122764.3:p.G40E

Associated Papers

Two new mutations in the PPOX gene in a patient with variegate porphyria.

Collantes-Rodríguez C et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020

Structural insight into human variegate porphyria disease.

Qin X et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011

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 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

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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."