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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADA2

Variant:p.E244K

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ADA2

NM_001282225.2:p.E244K

hg38:chr22:17203586 C>T

Associated Papers

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

34035534 (PubMed )

Periodic fever syndromes and the autoinflammatory diseases (AIDs).

Marino A et al.

Journal of Translational Autoimmunity, 2020

32743516 (PubMed )

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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."