Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.C26_P27insFs
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PPOX

NM_001122764.3:p.C26_P27insFs

Associated Papers

Mitochondrial targeting of normal and mutant protoporphyrinogen oxidase.

von und zu Fraunberg M et al.

The Journal of Biological Chemistry, 2003

Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.

von und zu Fraunberg M et al.

European Journal of Human Genetics : Ejhg, 2002

Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.

von und zu Fraunberg M et al.

Molecular Medicine (cambridge, Mass.), 2001

Diagnosis of variegate porphyria--hard to get?

von und zu Fraunberg M et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2000

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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."