Varaico: Literature-Extracted Genetic Variants

Gene:CHD1
Variant:p.R618Q
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CHD1

NM_001270.4:p.R618Q

Associated Papers

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

Anderson KJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

CHD1, a multifaceted epigenetic remodeler in prostate cancer.

Li H et al.

Frontiers in Oncology, 2023

Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.

Cardoso AR et al.

Genes, 2021

Chromatin remodelling complexes in cerebral cortex development and neurodevelopmental disorders.

D'Souza L et al.

Neurochemistry International, 2021

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

Pilarowski GO et al.

Journal of Medical Genetics, 2018

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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."