Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.G74D
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ADA

NM_000022.4:p.G74D

Associated Papers

Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.

Chi ZH et al.

Medicine, 2018

Genotype is an important determinant of phenotype in adenosine deaminase deficiency.

Hershfield MS

Current Opinion in Immunology, 2003

Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.

Ariga T et al.

Journal of Immunology (baltimore, Md. : 1950), 2001

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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."