Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.R169G
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ADA2

NM_001282225.2:p.R169G

Associated Papers

A Clinical Case Report of Deficiency of Adenosine Deaminase 2 Syndrome (DADA 2) Presenting as a Brachial Artery Aneurysm.

Sowdagar S et al.

Mediterranean Journal of Rheumatology, 2025

A rapid antigen test to detect adenosine deaminase 2 (ADA2) in biological fluids and its application in clinical diagnostics.

Yang W et al.

Frontiers in Immunology, 2025

Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data.

Yan L et al.

Clinical Immunology (orlando, Fla.), 2024

A Cohort Study on Deficiency of ADA2 from China.

Li GM et al.

Journal of Clinical Immunology, 2023

Early onset is an indication of the severity of DADA2 disease.

Zhao X et al.

Rheumatology (oxford, England), 2023

Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2.

Hui Ong EL et al.

The American Journal of Dermatopathology, 2023

ELISA based assays to measure adenosine deaminases concentration in serum and saliva for the diagnosis of ADA2 deficiency and cancer.

Luo W et al.

Frontiers in Immunology, 2022

Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings.

Guo L 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."