Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.L138_S139delFs
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GATA2

NM_032638.5:p.L138_S139delFs

Associated Papers

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L et al.

Blood Cancer Journal, 2025

40664679 (PubMed )
Supplement: 41408_2025_1309_MOESM3_ESM.xlsx › Sheet1

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

Roncareggi S et al.

Journal of Clinical Immunology, 2023

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene.

Michelini S et al.

Lymphology, 2016

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