Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.E13*
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GATA1

NM_002049.4:p.E13*

Associated Papers

Congenital leukemia: A case report and review of literature.

Yang CX et al.

World Journal of Clinical Cases, 2023

Highly sensitive detection of GATA1 mutations in patients with myeloid leukemia associated with Down syndrome by combining Sanger and targeted next generation sequencing.

Terui K et al.

Genes, Chromosomes & Cancer, 2020

Distinct GATA1 Point Mutations in Monozygotic Twins With Down Syndrome and Transient Abnormal Myelopoiesis From a Triplet Pregnancy: A Case Report and Review of Literature.

Yin L et al.

American Journal of Clinical Pathology, 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

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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."