Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.N206I
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GATA1

NM_002049.4:p.N206I

Associated Papers

A novel GATA1 variant p.G229D causing the defect of procoagulant platelet formation.

Ding B et al.

Thrombosis Research, 2024

GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.

Takasaki K et al.

Advances in Experimental Medicine and Biology, 2024

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.

Bastida JM et al.

Cells, 2022

GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis.

Saultier P et al.

Journal of Thrombosis and Haemostasis : Jth, 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."