Varaico: Literature-Extracted Genetic Variants

Gene:DOCK2
Variant:p.K286*
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DOCK2

NM_004946.3:p.K286*

Associated Papers

DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia.

Biglari S et al.

Journal of Clinical Immunology, 2025

40153067 (PubMed )
Supplement: 10875_2025_1877_MOESM1_ESM.docx

Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine.

Li W et al.

Journal of Clinical Immunology, 2023

A novel DOCK2 variant in siblings with severe combined immunodeficiency.

Bruusgaard-Mouritsen MA et al.

Scandinavian Journal of Immunology, 2023

DOCK2 Deficiency Diagnosed 18 Years After Hematopoietic Stem Cell Transplantation.

D'Astous-Gauthier K 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."