Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.Y63insFs
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GATA1

NM_002049.4:p.Y63insFs

Associated Papers

Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype.

Cai J et al.

Molecular Genetics and Metabolism Reports, 2025

GATA1 mutations in a cohort of Malaysian children with Down syndrome-associated myeloid disorder.

Lum SH et al.

Singapore Medical Journal, 2016

Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia.

Kanezaki R et al.

Blood, 2010

Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome.

Cabelof DC et al.

Blood, 2009

GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature.

Splendore A et al.

Human Mutation, 2005

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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."