Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.R171W
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ADA2

NM_001282225.2:p.R171W

Associated Papers

Atypical presentation of adenosine deaminase 2 deficiency with bi-allelic ADA2 mutation.

Al-Shaikh R et al.

Clinical Case Reports, 2022

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

Rama M et al.

European Journal of Human Genetics : Ejhg, 2018

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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."