Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.W224*
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PPOX

NM_001122764.3:p.W224*

Associated Papers

Genetic and biochemical studies in Argentinean patients with variegate porphyria.

Rossetti MV et al.

Bmc Medical Genetics, 2008

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.

Whatley SD et al.

American Journal of Human Genetics, 1999

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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."