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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASXL2

Variant:p.P1199insFs

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ASXL2

NM_018263.6:p.P1199insFs

hg38:chr2:25742742 G>GGCTT

Associated Papers

Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features.

Minotti C et al.

Molecular Syndromology, 2025

40475172 (PubMed )

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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."