Varaico: Literature-Extracted Genetic Variants

Gene:CHD2
Variant:p.D856G
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CHD2

NM_001271.4:p.D856G

Associated Papers

Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries.

Nuttle X et al.

Cell Reports Methods, 2024

Pleiotropy of autism-associated chromatin regulators.

Lasser M et al.

Development (cambridge, England), 2023

37366052 (PubMed )
Supplement: develop-150-201515_review_history.pdf

Clinical Study of 8 Cases of CHD2 Gene Mutation-Related Neurological Diseases and Their Mechanisms.

Luo X et al.

Frontiers in Cell and Developmental Biology, 2022

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

Werling DM et al.

Nature Genetics, 2018

Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.

Lamar KJ et al.

Frontiers in Molecular Neuroscience, 2018

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.

Thomas RH et al.

Neurology, 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

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Neale BM et al.

Nature, 2012

22495311 (PubMed )
Supplement: NIHMS361899-supplement-2.xls › De_Novo_Mutations
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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."