Varaico: Literature-Extracted Genetic Variants

Gene:CNOT3
Variant:p.E20Q
Back to variants list

CNOT3

NM_014516.4:p.E20Q

Associated Papers

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Engel C et al.

European Journal of Human Genetics : Ejhg, 2025

40562808 (PubMed )
Supplement: 41431_2025_1884_MOESM2_ESM.xlsx › Supp_data_2

Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients.

Zhao P et al.

Neurogenetics, 2023

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_

Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.

Meyer R et al.

Clinical Genetics, 2020

De novo variants in CNOT3 cause a variable neurodevelopmental disorder.

Martin R et al.

European Journal of Human Genetics : Ejhg, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."