Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.K999R
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CHD7

NM_017780.4:p.K999R

Associated Papers

ATPase-deficient CHD7 disease variant disrupts neural development via chromatin dysregulation.

Wang G et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Perturb-tracing enables high-content screening of multiscale 3D genome regulators.

Cheng Y et al.

Biorxiv : the Preprint Server for Biology, 2023

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.

Bouazoune K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

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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."