Varaico: Literature-Extracted Genetic Variants

Gene:ASH1L
Variant:p.R2630T
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ASH1L

NM_018489.3:p.R2630T

Associated Papers

Abnormal H3K4 enzyme catalytic activity and neuronal morphology caused by ASH1L mutations in individuals with Tourette syndrome.

Zhang C et al.

European Child & Adolescent Psychiatry, 2024

ASH1L may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study.

Liu W et al.

Brain and Behavior, 2022

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_MOESM8_ESM.xlsx › Validated_mutations

Role of Ash1l in Tourette syndrome and other neurodevelopmental disorders.

Zhang C et al.

Developmental Neurobiology, 2021

Mutations in ASH1L confer susceptibility to Tourette syndrome.

Liu S et al.

Molecular Psychiatry, 2020

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Guo H et al.

Molecular Autism, 2018

30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › MIS30_

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s5.xlsx › Supplementary_Data_4
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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."