Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.C1208fs
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CHD8

NM_001170629.2:p.C1208fs

Associated Papers

Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction.

Shi X et al.

American Journal of Human Genetics, 2023

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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."