Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.N381_V382Splc
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GATA2

NM_032638.5:p.N381_V382Splc

Associated Papers

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L et al.

Blood Cancer Journal, 2025

40664679 (PubMed )
Supplement: 41408_2025_1309_MOESM3_ESM.xlsx › Sheet1

Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.

Kwon YD et al.

Annals of Hematology, 2025

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM9_ESM.xlsx › Sup._T6_-_TSCA_calls

Disseminated Mycosis by Arthrocladium fulminans Jeopardizing a Patient with GATA2 Deficiency.

Egenlauf B et al.

Respiration; International Review of Thoracic Diseases, 0

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