Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.A53V
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GATA1

NM_002049.4:p.A53V

Associated Papers

Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Kiefer KC et al.

Esc Heart Failure, 2021

33779075 (PubMed )
Supplement: EHF2-8-1873-s002.xlsx › Sheet1

Manipulation of Developmental Gamma-Globin Gene Expression: an Approach for Healing Hemoglobinopathies.

Venkatesan V et al.

Molecular and Cellular Biology, 2020

Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ- gene mutations associated with hereditary persistence of fetal hemoglobin.

Amato A et al.

International Journal of Laboratory Hematology, 2014

Response to hydroxyurea therapy in beta-thalassemia.

Koren A et al.

American Journal of Hematology, 2008

Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.

Phillips JD et al.

Blood, 2007

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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."