Varaico: Literature-Extracted Genetic Variants

Gene:ASXL2
Variant:p.Q829*
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ASXL2

NM_018263.6:p.Q829*

Associated Papers

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Blood, 2025

40700635 (PubMed )
Supplement: BLOOD_BLD-2025-028993-mmc2.xlsx › Supplementary_Table_6

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974131 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_6

Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 2023

A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review.

Yuan M et al.

Translational Pediatrics, 2023

A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi-Pena syndrome.

Jiao Z et al.

European Journal of Medical Genetics, 2022

Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

Gelsi-Boyer V et al.

Journal of Hematology & Oncology, 2012

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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."