Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.F178S
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ADA2

NM_001282225.2:p.F178S

Associated Papers

Deficiency of adenosine deaminase 2 skews adaptive immune repertoires toward specific sets of T- and B-cell receptors.

Schultheiß C et al.

The Journal of Allergy and Clinical Immunology, 2025

Central retinal artery occlusion in a child with ADA2 deficiency: a case report.

Sharabati I et al.

Annals of Medicine and Surgery (2012), 2024

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

Whittaker E et al.

Journal of the American Heart Association, 2022

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

Pilania RK et al.

Frontiers in Immunology, 2022

The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.

Barron KS et al.

Frontiers in Immunology, 2021

35095905 (PubMed )
Supplement: Table_2.xlsx › Sheet1

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

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.

Meyts I et al.

Journal of Clinical Immunology, 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."