Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.P251_V252Splc
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ADA2

NM_001282225.2:p.P251_V252Splc

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

Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.

Zhang B et al.

Clinical Rheumatology, 2021

Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India.

Sharma A et al.

Arthritis & Rheumatology (hoboken, N.j.), 2021

Deficiency of Adenosine Deaminase 2 (DADA2) - A New Autoinflammatory Disease with Multisystem Features.

Khubchandani R et al.

Indian Pediatrics, 2020

Novel CECR1 gene mutations causing deficiency of adenosine deaminase 2, mimicking antiphospholipid syndrome.

Sharma A et al.

Rheumatology (oxford, England), 2019

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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."