Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.R212Q
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CHD8

NM_001170629.2:p.R212Q

Associated Papers

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

Jiménez JA et al.

Molecular Autism, 2020

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

Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology.

Barnard RA et al.

Frontiers in Neuroscience, 2015

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

O'Roak BJ et al.

Nature Communications, 2014

25418537 (PubMed )
Supplement: NIHMS636245-supplement-2.xlsx › Sheet_1
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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."