Varaico: Literature-Extracted Genetic Variants

Gene:ASH1L
Variant:p.P893insFs
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ASH1L

NM_018489.3:p.P893insFs

Associated Papers

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.

Cordova I et al.

Genes, 2024

38674358 (PubMed )
Supplement: genes-15-00423-s001.zip › genes-2896901-supplementary.xlsx › SupplementalTable1

ASH1L mutation caused seizures and intellectual disability in twin sisters.

Liu H et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2021

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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."