Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.S30_G31delFs
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GATA1

NM_002049.4:p.S30_G31delFs

Associated Papers

Detection of transient abnormal myelopoiesis blasts in a liver biopsy specimen by double-immunostaining for full-length GATA1 and CD42b.

Haba A et al.

Hematology (amsterdam, Netherlands), 2023

Sensitive detection of GATA1 mutations using complementary DNA-based analysis for transient abnormal myelopoiesis associated with the Down syndrome.

Mizuta S et al.

International Journal of Laboratory Hematology, 2022

Acute megakaryoblastic leukemia with acquired trisomy 21 and GATA1 mutations in phenotypically normal children.

Ono R et al.

European Journal of Pediatrics, 2015

Detection of mutations in GATA1 gene using automated denaturing high-performance liquid chromatography and direct sequencing in children with Down syndrome.

Amorim MR et al.

Leukemia & Lymphoma, 2009

Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome.

Pine SR et al.

Blood, 2007

GATA1 mutations in acute leukemia in children with Down syndrome.

Magalhães IQ et al.

Cancer Genetics and Cytogenetics, 2006

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."