Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.R426Q
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CPOX

NM_000097.7:p.R426Q

Associated Papers

Hereditary Coproporphyria in Which the Patient's Course Improved after the Discontinuation of Givosiran.

Ozaki N et al.

Internal Medicine (tokyo, Japan), 2024

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
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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."