Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.Q373*
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ASXL1

NM_015338.6:p.Q373*

Associated Papers

Selective advantage of mutant stem cells in human clonal hematopoiesis is associated with attenuated response to inflammation and aging.

Jakobsen NA et al.

Cell Stem Cell, 2024

38917807 (PubMed )
Supplement: mmc3.xlsx › Table_S2b

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

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S3

Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Avramović V et al.

Human Genomics, 2021

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

Urreizti R et al.

Clinical Case Reports, 2018

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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."