Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.E234K
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PPOX

NM_001122764.3:p.E234K

Associated Papers

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.

Barbaro M et al.

Orphanet Journal of Rare Diseases, 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."