Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.V74Splc
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GATA1

NM_002049.4:p.V74Splc

Associated Papers

GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.

Takasaki K et al.

Advances in Experimental Medicine and Biology, 2024

Massively parallel base editing to map variant effects in human hematopoiesis.

Martin-Rufino JD et al.

Cell, 2023

Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1.

Chen T et al.

Clinical Genetics, 2022

GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.

van Dooijeweert B et al.

Genes, 2022

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.

van Dooijeweert B et al.

British Journal of Haematology, 2021

Highly sensitive detection of GATA1 mutations in patients with myeloid leukemia associated with Down syndrome by combining Sanger and targeted next generation sequencing.

Terui K et al.

Genes, Chromosomes & Cancer, 2020

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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."