Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.P937delFs
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ASXL1

NM_015338.6:p.P937delFs

Associated Papers

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

Hennick K et al.

Biorxiv : the Preprint Server for Biology, 2025

40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs

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

Lin I et al.

Jci Insight, 2023

37053013 (PubMed )
Supplement: jciinsight-8-167744-s107.xlsx › Table_S1_Patient_

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."