Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.T358N
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GATA2

NM_032638.5:p.T358N

Associated Papers

Association of unbalanced translocation der(1;7) with germline GATA2 mutations.

Kozyra EJ et al.

Blood, 2021

Gata2-L359V impairs primitive and definitive hematopoiesis and blocks cell differentiation in murine chronic myelogenous leukemia model.

Fu YK et al.

Cell Death & Disease, 2021

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

Oleaga-Quintas C et al.

Journal of Clinical Immunology, 2021

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

Heterogeneity of GATA2-related myeloid neoplasms.

Hirabayashi S et al.

International Journal of Hematology, 2017

GATA2 deficiency and related myeloid neoplasms.

Wlodarski MW et al.

Seminars in Hematology, 2017

Erratum: Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Gao J et al.

Journal of Hematology & Oncology, 2015

Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.

Hahn CN et al.

Leukemia, 2015

Acute Myeloid Leukemia With Myelodysplasia-Related Changes.

Vardiman J et al.

American Journal of Clinical Pathology, 2015

GATA family transcriptional factors: emerging suspects in hematologic disorders.

Gao J et al.

Experimental Hematology & Oncology, 2015

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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."