Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.R109W
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CPOX

NM_000097.7:p.R109W

Associated Papers

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Saini N et al.

Plos Genetics, 2021

33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

Zhou H et al.

Brain : a Journal of Neurology, 2007

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.

Blair E et al.

Journal of Medical Genetics, 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."