Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.C1710R
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CREBBP

NM_004380.3:p.C1710R

Associated Papers

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

Tang Y et al.

Human Molecular Genetics, 2026

O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.

Mayfield JM et al.

The Journal of Biological Chemistry, 2024

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Haghshenas S et al.

Hgg Advances, 2024

Menke-Hennekam Syndrome: A Literature Review and a New Case Report.

Sima A et al.

Children (basel, Switzerland), 2022

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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."