Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.D454H
Back to variants list

ADA2

NM_001282225.2:p.D454H

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

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

Pilania RK et al.

Frontiers in Immunology, 2022

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.

Özen S et al.

The Journal of Rheumatology, 2020

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

Sahin S et al.

Current Opinion in Rheumatology, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."