Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.K618insFs
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ASXL1

NM_015338.6:p.K618insFs

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_MOESM8_ESM.xlsx › Sheet1

Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.

Köhnke T et al.

Blood Cancer Discovery, 2024

38359087 (PubMed )
Supplement: bcd-23-0235_supplementary_tables_1-5_suppst1.xlsx › Supplementary_Table_1

Extreme Gradient Boosting Tuned with Metaheuristic Algorithms for Predicting Myeloid NGS Onco-Somatic Variant Pathogenicity.

Pellegrino E et al.

Bioengineering (basel, Switzerland), 2023

37508780 (PubMed )
Supplement: bioengineering-10-00753-s001.zip › bioengineering-2428084-supplementary.xls › run24012023b_all

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.

Jørgensen SF et al.

Journal of Clinical Immunology, 2022

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