Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.G48insFs
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ADA2

NM_001282225.2:p.G48insFs

Associated Papers

Pediatric Sneddon syndrome presenting with early-onset liver fibrosis: a rare case report.

Awad QN et al.

Oxford Medical Case Reports, 2025

Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.

Kaplan Sarıkavak S et al.

Frontiers in Immunology, 2025

Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.

Alabbas F et al.

Journal of Clinical Immunology, 2023

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Whittaker E et al.

Journal of the American Heart Association, 2022

Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.

Pilania RK et al.

Frontiers in Immunology, 2022

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.

Hashem H et al.

Journal of Clinical Immunology, 2021

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2018

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.

Hashem H et al.

Blood, 2017

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

Ben-Ami T et al.

The Journal of Pediatrics, 2016

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