Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.C13S
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CPOX

NM_000097.7:p.C13S

Associated Papers

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.

Wang Y et al.

Orphanet Journal of Rare Diseases, 2024

Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene.

Binder J et al.

Brain : a Journal of Neurology, 2003

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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."