Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R230fs
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GATA2

NM_032638.5:p.R230fs

Associated Papers

GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.

Rukerd MRZ et al.

Bmc Infectious Diseases, 2024

Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review.

Shen Y et al.

Infection and Drug Resistance, 2021

[MonoMAC syndrome patient developing myelodysplastic syndrome following persistent EBV infection].

Yamamoto H et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 0

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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."