Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.L178V
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PPOX

NM_001122764.3:p.L178V

Associated Papers

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

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

Genetic and biochemical studies in Argentinean patients with variegate porphyria.

Rossetti MV et al.

Bmc Medical Genetics, 2008

Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.

De Siervi A et al.

Human Mutation, 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."