Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.G48R
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ADA2

NM_001282225.2:p.G48R

Associated Papers

A case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlation.

Cai Q et al.

American Journal of Medical Genetics. Part A, 2024

A Cohort Study on Deficiency of ADA2 from China.

Li GM et al.

Journal of Clinical Immunology, 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

Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China.

Wang W et al.

Pediatric Rheumatology Online Journal, 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."