Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.N381fs
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GATA2

NM_032638.5:p.N381fs

Associated Papers

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.

Jørgensen SF et al.

Journal of Clinical Immunology, 2022

34893945 (PubMed )
Supplement: 10875_2021_1189_MOESM1_ESM.docx

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

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