Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.H94R
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CYBA

NM_000101.4:p.H94R

Associated Papers

Targeted gene editing and near-universal cDNA insertion of CYBA and CYBB as a treatment for chronic granulomatous disease.

Wolff JH et al.

Nature Communications, 2025

40796771 (PubMed )
Supplement: 41467_2025_62738_MOESM1_ESM.pdf

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

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 2008

Mutagenesis of p22(phox) histidine 94. A histidine in this position is not required for flavocytochrome b558 function.

Biberstine-Kinkade KJ et al.

The Journal of Biological Chemistry, 2002

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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."