Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.Y394D
Back to variants list

NCF2

NM_000433.4:p.Y394D

Associated Papers

Two distinct clinical progressions of P67phox-deficient CGD, both commencing with cervical lymphadenitis.

Dong L et al.

Italian Journal of Pediatrics, 2024

Clinical and molecular significance of flow cytometric analysis for reactive oxygen species production and residual p67phox expression in p67phox-deficient chronic granulomatous disease.

Miyazawa H et al.

Scandinavian Journal of Immunology, 2024

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.

Gao LW et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."