Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD8

Variant:p.R1178C

Back to variants list

CHD8

NM_001170629.2:p.R1178C

hg38:chr14:21403199 G>A

Associated Papers

Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life.

Jiménez JA et al.

Molecular Autism, 2020

33023670 (PubMed )

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."