Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.D218N
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GATA1

NM_002049.4:p.D218N

Associated Papers

Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.

Zaninetti C et al.

Journal of Thrombosis and Haemostasis : Jth, 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

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

Germline GATA1 exon 2 mutation associated with chronic cytopenia and a non-down syndrome transient abnormal myelopoiesis with clonal trisomy 21.

Camargo R et al.

Leukemia, 2022

Genetics of inherited thrombocytopenias.

Warren JT et al.

Blood, 2022

The polymorphic landscape analysis of GATA1 exons uncovered the genetic variants associated with higher thrombocytopenia in dengue patients.

Al Rimon R et al.

Plos Neglected Tropical Diseases, 2022

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis.

Saultier P et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

GATA1 mutations in red cell disorders.

Ling T et al.

Iubmb Life, 2020

GATA1 gene variants associated with thrombocytopenia and anemia.

Freson K et al.

Platelets, 2017

Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems.

Hermans C et al.

Platelets, 2014

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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."