Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.N423K
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ADA2

NM_001282225.2:p.N423K

Associated Papers

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

Deficiency of adenosine deaminase 2 skews adaptive immune repertoires toward specific sets of T- and B-cell receptors.

Schultheiß C et al.

The Journal of Allergy and Clinical Immunology, 2025

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

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.

Zhang B et al.

Clinical Rheumatology, 2021

Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India.

Sharma A et al.

Arthritis & Rheumatology (hoboken, N.j.), 2021

Thirty Years of Followup in 3 Patients with Familial Polyarteritis Nodosa due to Adenosine Deaminase 2 Deficiency.

Liebowitz J et al.

The Journal of Rheumatology, 2019

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