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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADA

Variant:p.G316G

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ADA

NM_000022.4:p.G316G

hg38:chr20:44621045 G>C

Associated Papers

Neutropenia among patients with adenosine deaminase deficiency.

Kim VH et al.

The Journal of Allergy and Clinical Immunology, 2019

29753815 (PubMed )

Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.

Grunebaum E et al.

The Journal of Allergy and Clinical Immunology, 2012

22409989 (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."