Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.R307H
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GATA1

NM_002049.4:p.R307H

Associated Papers

GATA1 Drives Human Erythropoiesis via Liquid-Liquid Phase Separation.

Li M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026

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

Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant.

Jurk K et al.

Cells, 2022

An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia.

Hetzer B et al.

Blood Advances, 2022

Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.

Ludwig LS et al.

Blood, 2022

Identification of novel TUBB1 variants in patients with macrothrombocytopenia.

Çalışkaner ZO et al.

Turkish Journal of Medical Sciences, 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."