Varaico: Literature-Extracted Genetic Variants

Gene:DOCK8
Variant:p.S669_W670Splc
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DOCK8

NM_203447.4:p.S669_W670Splc

Associated Papers

Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations.

Saghafi S et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2022

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

Frede N et al.

Journal of Clinical Immunology, 2021

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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."