Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.G232S
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PPOX

NM_001122764.3:p.G232S

Associated Papers

Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.

Kaiser N et al.

Orphanet Journal of Rare Diseases, 2025

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

A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.

Poblete-Gutiérrez P et al.

The British Journal of Dermatology, 2006

[Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile].

Wolff C et al.

Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 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."