Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.V74I
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GATA1

NM_002049.4:p.V74I

Associated Papers

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports.

Tang H et al.

Molecular Cytogenetics, 2023

GATA1 mutation analysis and molecular landscape characterization in acute myeloid leukemia with trisomy 21 in pediatric patients.

Panferova A et al.

International Journal of Laboratory Hematology, 2021

Complete blood count differences in a cohort of Down syndrome neonates with transient abnormal myelopoiesis screened for GATA1 pathogenic variants.

Orozco-Vela M et al.

American Journal of Medical Genetics. Part A, 2020

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

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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."