Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.G57R
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PPOX

NM_001122764.3:p.G57R

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

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.

Wang Y et al.

Orphanet Journal of Rare Diseases, 2024

Insight into the Role of an α-Helix Cluster in Protoporphyrinogen IX Oxidase.

Wang B et al.

Biochemistry, 2024

Homozygous variegate porphyria presenting with developmental and language delay in childhood.

Pinder VA et al.

Clinical and Experimental Dermatology, 2013

Quantitative structural insight into human variegate porphyria disease.

Wang B et al.

The Journal of Biological Chemistry, 2013

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

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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."