Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.A104_L105insFs
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GATA2

NM_032638.5:p.A104_L105insFs

Associated Papers

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.

Nakazawa H et al.

International Journal of Hematology, 2021

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Rio-Machin A et al.

Nature Communications, 2020

32098966 (PubMed )
Supplement: 41467_2020_14829_MOESM5_ESM.xlsx › ST_2_Group_1_families

GATA family transcriptional factors: emerging suspects in hematologic disorders.

Gao J et al.

Experimental Hematology & Oncology, 2015

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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."