Varaico: Literature-Extracted Genetic Variants

Gene:CTCF
Variant:p.R339L
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CTCF

NM_006565.4:p.R339L

Associated Papers

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.

Karimi K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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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."