Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.S51fs
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GATA1

NM_002049.4:p.S51fs

Associated Papers

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S9___Molecular_Classification

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.

Lalonde E et al.

Cold Spring Harbor Molecular Case Studies, 2021

Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Surrey LF et al.

Genome Medicine, 2019

31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8

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

Lum SH et al.

Singapore Medical Journal, 2016

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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."