Varaico: Literature-Extracted Genetic Variants

Gene:ASH1L
Variant:p.E1236fs
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ASH1L

NM_018489.3:p.E1236fs

Associated Papers

Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.

Qin Y et al.

Developmental Neuroscience, 2025

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

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA et al.

Nature Genetics, 2017

28191889 (PubMed )
Supplement: NIHMS846201-supplement-1.pdf
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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."