Varaico: Literature-Extracted Genetic Variants

Gene:FMO5
Variant:p.E309K
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FMO5

NM_001461.4:p.E309K

Associated Papers

Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers.

Tsilifis C et al.

Journal of Clinical Immunology, 2023

Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients.

Gul I et al.

Italian Journal of Pediatrics, 2023

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

Residual NADPH oxidase and survival in chronic granulomatous disease.

Kuhns DB et al.

The New England Journal of Medicine, 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."