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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GATA2

Variant:p.A342insFs

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GATA2

NM_032638.5:p.A342insFs

hg38:chr3:128481937 G>GC

Associated Papers

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

41537337 (PubMed )

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.

West RR et al.

Blood Advances, 2022

34529785 (PubMed )

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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."