Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.L315P
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GATA2

NM_032638.5:p.L315P

Associated Papers

GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.

Kotmayer L et al.

British Journal of Haematology, 2022

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

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

Bresnick EH et al.

Blood Advances, 2020

GATA2 zinc finger 1 mutations are associated with distinct clinico-biological features and outcomes different from GATA2 zinc finger 2 mutations in adult acute myeloid leukemia.

Tien FM et al.

Blood Cancer Journal, 2018

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.

Donadieu J et al.

Haematologica, 2018

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations.

Maciejewski-Duval A et al.

Journal of Leukocyte Biology, 2016

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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."