Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.E883*
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CHD8

NM_001170629.2:p.E883*

Associated Papers

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

Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children.

Wang J et al.

Bmc Pediatrics, 2018

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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."