Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.A342fs
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GATA2

NM_032638.5:p.A342fs

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

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

Oleaga-Quintas C et al.

Journal of Clinical Immunology, 2021

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
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