Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.L15F
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CPOX

NM_000097.7:p.L15F

Associated Papers

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

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.

Whatley SD et al.

American Journal of Human Genetics, 1999

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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."