Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.R9W
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ADA2

NM_001282225.2:p.R9W

Associated Papers

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

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

Pilania RK et al.

Frontiers in Immunology, 2022

[Corrigendum] Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach.

Zervou MI et al.

Molecular Medicine Reports, 2021

Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis.

Gibson KM et al.

Arthritis & Rheumatology (hoboken, N.j.), 2019

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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."