Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.T873fs
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CREBBP

NM_004380.3:p.T873fs

Associated Papers

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.

Prada E et al.

Genes, 2025

39858651 (PubMed )
Supplement: genes-16-00104-s001.zip › genes-3365858-supplementary.pdf

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Levy MA et al.

Hgg Advances, 2022

35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Van Gils J et al.

Genes, 2021

34202860 (PubMed )
Supplement: genes-12-00968-s001.zip › genes-1248377-supplementary.pdf

Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.

Aleo S et al.

Frontiers in Cell and Developmental Biology, 2020

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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."