Varaico: Literature-Extracted Genetic Variants

Gene:DOCK8
Variant:p.R560Splc
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DOCK8

NM_203447.4:p.R560Splc

Associated Papers

DOCK8 deficiency presenting with sclerosing cholangitis, raised immunoglobulin E, and bronchiectasis: A fatal pediatric case report.

Nedelkopoulou N et al.

Jpgn Reports, 2026

Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome.

Aghebati-Maleki A et al.

Iranian Journal of Allergy, Asthma, 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."