Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.S129fs
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GATA2

NM_032638.5:p.S129fs

Associated Papers

Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report.

Vendemini F et al.

Journal of Clinical Immunology, 2025

A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.

Roncareggi S et al.

Journal of Clinical Immunology, 2023

When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis.

Saettini F et al.

Pediatric Hematology and Oncology, 2021

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