Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.Y348C
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PPOX

NM_001122764.3:p.Y348C

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

Crystal structure of protoporphyrinogen oxidase from Myxococcus xanthus and its complex with the inhibitor acifluorfen.

Corradi HR et al.

The Journal of Biological Chemistry, 2006

Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.

Maneli MH et al.

Biochimica Et Biophysica Acta, 2003

Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.

Corrigall AV et al.

Molecular Genetics and Metabolism, 2000

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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."