Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.M1T
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GATA1

NM_002049.4:p.M1T

Associated Papers

GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.

Takasaki K et al.

Advances in Experimental Medicine and Biology, 2024

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

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

Genetics of inherited thrombocytopenias.

Warren JT et al.

Blood, 2022

Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype.

Hasle H et al.

Blood, 2022

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

Ludwig LS 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

Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia.

Wang Q et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

GATA Transcription Factors: Basic Principles and Related Human Disorders.

Fujiwara T

The Tohoku Journal of Experimental Medicine, 2017

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

GATA family transcriptional factors: emerging suspects in hematologic disorders.

Gao J et al.

Experimental Hematology & Oncology, 2015

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."