Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.A772fs
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ASXL1

NM_015338.6:p.A772fs

Associated Papers

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.

Lin I et al.

Jci Insight, 2023

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.

Awamleh Z et al.

European Journal of Human Genetics : Ejhg, 2022

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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."