Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.P193insFs
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GATA2

NM_032638.5:p.P193insFs

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

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Holme H et al.

British Journal of Haematology, 2012

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Ostergaard P et al.

Nature Genetics, 2011

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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."