Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.R45W
Back to variants list

ADA2

NM_001282225.2:p.R45W

Associated Papers

Getting to know adenosine deaminase 2 deficiency inside and out.

Ehlers L et al.

The Journal of Allergy and Clinical 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

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

Whittaker E et al.

Journal of the American Heart Association, 2022

Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency.

Insalaco A et al.

The Journal of Rheumatology, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."