Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.M1_E2insFs
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GATA1

NM_002049.4:p.M1_E2insFs

Associated Papers

Single-cell transcriptomics reveal individual and cooperative effects of trisomy 21 and GATA1s on hematopoiesis.

Takasaki K et al.

Stem Cell Reports, 2025

Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesis.

Sit YT et al.

Jci Insight, 2023

37906251 (PubMed )
Supplement: jciinsight-8-172851-s096.pdf

Generation of CHOPi-008-B, a euploid iPSC line from a patient with Trisomy 21 and a GATA1 mutation.

Takasaki K et al.

Stem Cell Research, 2023

Generation of 2 isogenic clones from a patient with Trisomy 21 and a GATA1 mutation.

Takasaki K et al.

Stem Cell Research, 2023

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

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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."