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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADA

Variant:p.S332F

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ADA

NM_000022.4:p.S332F

hg38:chr20:44620382 G>A

Associated Papers

Reversion Mosaicism in Primary Immunodeficiency Diseases.

Miyazawa H et al.

Frontiers in Immunology, 2021

34868061 (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."