Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.L115L
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PPOX

NM_001122764.3:p.L115L

Associated Papers

Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.

Colombo FP et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013

Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.

Parera VE et al.

Molecular Medicine (cambridge, Mass.), 0

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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."