Varaico: Literature-Extracted Genetic Variants

Gene:DOCK2
Variant:p.S519Splc
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DOCK2

NM_004946.3:p.S519Splc

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

A novel DOCK2 variant in siblings with severe combined immunodeficiency.

Bruusgaard-Mouritsen MA et al.

Scandinavian Journal of Immunology, 2023

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