Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.R138L
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PPOX

NM_001122764.3:p.R138L

Associated Papers

Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.

van Tuyll van Serooskerken AM et al.

The British Journal of Dermatology, 2012

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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."