Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.A247fs
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ADA2

NM_001282225.2:p.A247fs

Associated Papers

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

Pilania RK et al.

Frontiers in Immunology, 2022

Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations.

Albalawi R et al.

Journal of Investigative Medicine High Impact Case Reports, 0

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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."