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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASH1L

Variant:p.L1002_K1013del12

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ASH1L

NM_018489.3:p.L1002_K1013del12

hg38:chr1:155479830 CTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAG>C

Associated Papers

Ash1l loss-of-function results in structural birth defects and altered cortical development.

Toolan KP et al.

Brain : a Journal of Neurology, 2025

38943682 (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."