Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.V257D
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PPOX

NM_001122764.3:p.V257D

Associated Papers

Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations.

Sies CW et al.

Pathology, 2005

Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard.

Hift RJ et al.

Clinical Chemistry, 2004

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

Maneli MH et al.

Biochimica Et Biophysica Acta, 2003

Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.

Corrigall AV et al.

Molecular Genetics and Metabolism, 2001

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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."