Varaico: Literature-Extracted Genetic Variants

Gene:DOCK8
Variant:p.G46D
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DOCK8

NM_203447.4:p.G46D

Associated Papers

Comprehensive αβ T-Cell Receptor Repertoire Analysis Reveals a Unique CD8+ TCR Landscape in DOCK8-Deficient Patients.

Bozkurt C et al.

Allergy, 2025

Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes.

Mohan DR et al.

European Journal of Endocrinology, 2025

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.

Kouri C et al.

Ebiomedicine, 2025

40037090 (PubMed )
Supplement: mmc2.pdf

Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency.

Haskologlu S et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2020

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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."