Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.E2103fs
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CHD8

NM_001170629.2:p.E2103fs

Associated Papers

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

Dingemans AJM et al.

Translational Psychiatry, 2022

36182950 (PubMed )
Supplement: 41398_2022_2189_MOESM1_ESM.xlsx › Sheet1

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_
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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."