Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.K315del1
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CYBB

NM_000397.4:p.K315del1

Associated Papers

A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease.

Zurro NB et al.

Pediatric Blood & Cancer, 2018

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

Identification of NOX2 regions for normal biosynthesis of cytochrome b558 in phagocytes highlighting essential residues for p22phox binding.

Beaumel S et al.

The Biochemical Journal, 2014

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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."