Varaico: Literature-Extracted Genetic Variants

Gene:NCF1
Variant:p.Y26fs
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NCF1

NM_000265.7:p.Y26fs

Associated Papers

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Hebert A et al.

Elife, 2022

Unusual Severe Seborrheic Dermatitis in Two Siblings with Autosomal Recessive Chronic Granulomatous Disease.

Zurro NB et al.

Journal of Clinical Immunology, 2019

Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47-phox defect.

Tajik S et al.

Scandinavian Journal of Immunology, 2019

The driver landscape of sporadic chordoma.

Tarpey PS et al.

Nature Communications, 2017

29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM5_ESM.xlsx › ST2
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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."