Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.P304H
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GATA2

NM_032638.5:p.P304H

Associated Papers

Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.

Hirsch P et al.

Blood Cancer Journal, 2024

38871702 (PubMed )
Supplement: 41408_2024_1078_MOESM1_ESM.pdf

GATA2 mitotic bookmarking is required for definitive haematopoiesis.

Silvério-Alves R et al.

Nature Communications, 2023

Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Ferraro F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34845035 (PubMed )
Supplement: pnas.2116427118.sd02.xlsx › mutations.2021.02.24

Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?

Bresnick EH et al.

Blood Advances, 2020

Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.

Sahoo SS et al.

Best Practice & Research. Clinical Haematology, 2020

GATA2 mutations in myeloid malignancies: Two zinc fingers in many pies.

Leubolt G et al.

Iubmb Life, 2020

Human leukemia mutations corrupt but do not abrogate GATA-2 function.

Katsumura KR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

GATA2 deficiency and related myeloid neoplasms.

Wlodarski MW et al.

Seminars in Hematology, 2017

Exome sequencing identifies highly recurrent somatic GATA2 and CEBPA mutations in acute erythroid leukemia.

Ping N et al.

Leukemia, 2017

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

Pasquet M et al.

Blood, 2013

High GATA2 expression is a poor prognostic marker in pediatric acute myeloid leukemia.

Luesink M et al.

Blood, 2012

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Hahn CN et al.

Nature Genetics, 2011

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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."