Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.N317I
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GATA2

NM_032638.5:p.N317I

Associated Papers

SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.

Pitts HA et al.

International Journal of Molecular Sciences, 2023

37298647 (PubMed )
Supplement: ijms-24-09696-s001.zip › Manuscript_SPINK2_supplementary_tables.xlsx › Table_S14

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations.

Venable ER et al.

American Journal of Clinical Pathology, 2021

33978189 (PubMed )
Supplement: aqab010_suppl_supplementary_materials.docx

RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.

Adnan Awad S et al.

Leukemia, 2021

32782381 (PubMed )
Supplement: 41375_2020_1011_MOESM5_ESM.xlsx › Mutation_in_Australian_cohort

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Ma X et al.

Nature, 2018

29489755 (PubMed )
Supplement: NIHMS939556-supplement-Table_2-7.xlsx › TableS5

GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations.

Green CL et al.

British Journal of Haematology, 2013

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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."