Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.W68Splc
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CYBA

NM_000101.4:p.W68Splc

Associated Papers

Optimizing the diagnosis of chronic granulomatous disease using dihydrorhodamine-123 assay: Lessons from a large monocentric cohort.

Oiuna L et al.

Cytometry. Part B, Clinical Cytometry, 2026

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

A new autosomal recessive, heterozygous pair of mutations of CYBA in a patient with chronic granulomatous disease.

Chang YH et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2010

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Chronic granulomatous disease associated colitis leading to profound zinc deficiency.

Ladinsky HT et al.

The Journal of Allergy and Clinical Immunology. in Practice, 0

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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."