Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.V744I
Back to variants list

CHD8

NM_001170629.2:p.V744I

Associated Papers

The complex etiology of autism spectrum disorder due to missense mutations of CHD8.

Shiraishi T et al.

Molecular Psychiatry, 2024

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.

Rodin RE et al.

Nature Neuroscience, 2021

33432195 (PubMed )
Supplement: NIHMS1648954-supplement-1648954_SuppTables.xlsx › Table_S7.2

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

Wang J et al.

Bmc Pediatrics, 2018

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

D'Gama AM et al.

Neuron, 2015

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."