Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.E34V
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PPOX

NM_001122764.3:p.E34V

Associated Papers

Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.

Méndez M et al.

Jimd Reports, 2012

Structural insight into human variegate porphyria disease.

Qin X et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011

Genetic and biochemical studies in Argentinean patients with variegate porphyria.

Rossetti MV et al.

Bmc Medical Genetics, 2008

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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."