Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.E157A
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PPOX

NM_001122764.3:p.E157A

Associated Papers

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Mitochondrial targeting of normal and mutant protoporphyrinogen oxidase.

von und zu Fraunberg M et al.

The Journal of Biological Chemistry, 2003

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

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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."