Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.R773*
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CHD8

NM_001170629.2:p.R773*

Associated Papers

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.

An Y et al.

Human Genetics, 2020

Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Rao A et al.

Bmc Medical Genomics, 2018

29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
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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."