Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.G25C
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ADA2

NM_001282225.2:p.G25C

Associated Papers

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants.

Yue J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

Getting to know adenosine deaminase 2 deficiency inside and out.

Ehlers L et al.

The Journal of Allergy and Clinical Immunology, 2025

Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.

Chen L et al.

The Journal of Allergy and Clinical Immunology, 2023

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Whittaker E et al.

Journal of the American Heart Association, 2022

Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.

Jee H et al.

The Journal of Allergy and Clinical Immunology, 2022

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

Pilania RK et al.

Frontiers in Immunology, 2022

DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French cases.

Fayand A et al.

Seminars in Arthritis and Rheumatism, 2021

Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.

Zhang B et al.

Clinical Rheumatology, 2021

Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.

Rannikmäe K et al.

Stroke, 2020

32842921 (PubMed )
Supplement: str_stroke-2020-029517_supp1.pdf

A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.

Sahin S et al.

Current Opinion in Rheumatology, 2020

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

Rama M et al.

European Journal of Human Genetics : Ejhg, 2018

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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."