Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.L96Splc
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CYBA

NM_000101.4:p.L96Splc

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

Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.

Ashton JJ et al.

Inflammatory Bowel Diseases, 2016

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

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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."