Varaico: Literature-Extracted Genetic Variants

Gene:ASH1L
Variant:p.A724S
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ASH1L

NM_018489.3:p.A724S

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

Role of Ash1l in Tourette syndrome and other neurodevelopmental disorders.

Zhang C et al.

Developmental Neurobiology, 2021

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

Novel MCA/ID syndrome with ASH1L mutation.

Okamoto N et al.

American Journal of Medical Genetics. Part A, 2017

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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."