Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.R307C
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GATA1

NM_002049.4:p.R307C

Associated Papers

Enhancement of PRMT6 binding to a novel germline GATA1 mutation associated with congenital anemia.

Lu Y et al.

Haematologica, 2024

GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.

Takasaki K et al.

Advances in Experimental Medicine and Biology, 2024

Gata1s mutant mice display persistent defects in the erythroid lineage.

Ling T et al.

Blood Advances, 2023

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

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

Ludwig LS et al.

Blood, 2022

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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."