Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.R332Q
Back to variants list

CPOX

NM_000097.7:p.R332Q

Associated Papers

Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.

Moghe A et al.

Molecular Genetics and Metabolism, 2023

The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.

Fukuda Y et al.

Nature Communications, 2016

27507172 (PubMed )
Supplement: ncomms12353-s1.pdf

Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing.

Rudd A et al.

The Australasian Journal of Dermatology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."