Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.R131fs
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ADA2

NM_001282225.2:p.R131fs

Associated Papers

A Cohort Study on Deficiency of ADA2 from China.

Li GM et al.

Journal of Clinical Immunology, 2023

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

Pilania RK et al.

Frontiers in Immunology, 2022

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.

Hashem H 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

Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Wang W et al.

Frontiers in Immunology, 2020

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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."