Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.F207C
Back to variants list

ADA2

NM_001282225.2:p.F207C

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

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.

Rozevska M et al.

Frontiers in 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

Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.

Chen L et al.

The Journal of Allergy and Clinical Immunology, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."