Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.E12E
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CYBA

NM_000101.4:p.E12E

Associated Papers

Prevalence of synonymous mutations in m6A modification sites in human cancers.

Chen R et al.

Genes & Diseases, 2025

39524540 (PubMed )
Supplement: mmc3.xlsx › cosmic_GRCH38_DRACH_mutA_overla

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

van Deuren RC et al.

Genome Medicine, 2021

34034819 (PubMed )
Supplement: 13073_2021_907_MOESM1_ESM.xlsx › Table_S8_

CYBA encoding p22(phox), the cytochrome b558 alpha polypeptide: gene structure, expression, role and physiopathology.

Stasia MJ

Gene, 2016

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.

Bedard K et al.

Human Mutation, 2009

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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."