Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.L451F
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ADA2

NM_001282225.2:p.L451F

Associated Papers

Deficiency of adenosine deaminase 2 leading to recurrent Hodgkin lymphoma: A case report.

Manhal A et al.

Sage Open Medical Case Reports, 2024

Novel ADA2 Variants in a Romanian Case Series of DADA2.

Cochino AV et al.

Journal of Clinical Immunology, 2023

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

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

Meyts I et al.

Journal of Clinical Immunology, 2018

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

Ben-Ami T et al.

The Journal of Pediatrics, 2016

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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."