Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.L37_L39del3
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ADA2

NM_001282225.2:p.L37_L39del3

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

Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.

Mangaonkar AA et al.

Mayo Clinic Proceedings, 2019

Monogenic polyarteritis: the lesson of ADA2 deficiency.

Caorsi R et al.

Pediatric Rheumatology Online Journal, 2016

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.

Gonzalez Santiago TM et al.

Jama Dermatology, 2015

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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."