Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.V74delFs
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GATA1

NM_002049.4:p.V74delFs

Associated Papers

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

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

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

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

van Dooijeweert B et al.

Genes, 2022

GATA1 mutations in red cell disorders.

Ling T et al.

Iubmb Life, 2020

A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5'UTR GATA1s Splice Mutation.

Zucker J et al.

Pediatric Blood & Cancer, 2016

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Parrella S et al.

Pediatric Blood & Cancer, 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."