Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.F212del1
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ADA2

NM_001282225.2:p.F212del1

Associated Papers

Genetic Basis of Autoinflammatory Skin Diseases. Part I. Genetic Pathways of Complex Autoinflammatory Skin Diseases.

Burke OM et al.

Journal of the American Academy of Dermatology, 2025

Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.

Pilania RK et al.

Frontiers in Immunology, 2022

Sneddon syndrome associated with two novel ADA2 gene mutations.

Tull TJ et al.

Rheumatology (oxford, England), 2020

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).

Lee PY et al.

The Journal of Allergy and Clinical 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."