Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.S340fs
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GATA2

NM_032638.5:p.S340fs

Associated Papers

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.

Santiago M et al.

Cancers, 2023

Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.

Kwon SS et al.

Frontiers in Immunology, 2023

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.

Wu Z et al.

Blood Advances, 2020

[Clinical and molecular characteristics of GATA2 related pediatric primary myelodysplastic syndrome].

An WB et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2019

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

Donadieu J et al.

Haematologica, 2018

29724903 (PubMed )
Supplement: 2017.181909.DONADIEU_SUPPL.pdf

Generalized verrucosis caused by various human papillomaviruses in a patient with GATA2 deficiency.

Kuriyama Y et al.

The Journal of Dermatology, 2018

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