Varaico: Literature-Extracted Genetic Variants

Gene:DOCK8
Variant:p.E1725D
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DOCK8

NM_203447.4:p.E1725D

Associated Papers

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

Skewed B cell receptor repertoire and reduced antibody avidity in patients with DOCK8 deficiency.

Tang W et al.

Scandinavian Journal of Immunology, 2019

Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome.

Qin T et al.

Immunologic Research, 2016

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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."