Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R362P
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GATA2

NM_032638.5:p.R362P

Associated Papers

Pathogenic GATA2 genetic variants utilize an obligate enhancer mechanism to distort a multilineage differentiation program.

Katsumura KR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

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

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

Donadieu J et al.

Haematologica, 2018

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