Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.N127I
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ADA2

NM_001282225.2:p.N127I

Associated Papers

Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and nonconfirmatory genetic testing.

Grossi A et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2026

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.

Wouters M et al.

The Journal of Experimental Medicine, 2025

40864493 (PubMed )
Supplement: jem_20250499_tables13.xlsx › Supplemental_Table_13

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.

Wouters M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39711711 (PubMed )
Supplement: media-2.xlsx › Supplemental_Data_File_4

A Cohort Study on Deficiency of ADA2 from China.

Li GM et al.

Journal of Clinical Immunology, 2023

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