Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.R59Q
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PPOX

NM_001122764.3:p.R59Q

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

Molecular mechanisms of disease-causing missense mutations.

Stefl S et al.

Journal of Molecular Biology, 2013

Quantitative structural insight into human variegate porphyria disease.

Wang B et al.

The Journal of Biological Chemistry, 2013

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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."