Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.L324_V325Splc
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ADA2

NM_001282225.2:p.L324_V325Splc

Associated Papers

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

Whittaker E et al.

Journal of the American Heart Association, 2022

A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.

Sahin S et al.

Current Opinion in Rheumatology, 2020

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

Meyts I et al.

Journal of Clinical Immunology, 2018

Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.

Schepp J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2017

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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."