Varaico: Literature-Extracted Genetic Variants

Gene:ASH1L
Variant:p.R2397*
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ASH1L

NM_018489.3:p.R2397*

Associated Papers

Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability.

Liao B et al.

Frontiers in Neurology, 2025

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

Chan AJS et al.

Nature Communications, 2022

36309498 (PubMed )
Supplement: 41467_2022_34112_MOESM4_ESM.xlsx › SupData_5

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Vilela J et al.

Frontiers in Molecular Neuroscience, 2022

36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

Tammimies K et al.

Jama, 2015

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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."