Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.D1480G
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CREBBP

NM_004380.3:p.D1480G

Associated Papers

Molecular genetic analysis of Rubinstein-Taybi syndrome in Russian patients.

Ismagilova OR et al.

Frontiers in Genetics, 2025

39958159 (PubMed )
Supplement: DataSheet1.pdf

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

Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.

Cross E et al.

American Journal of Medical Genetics. Part A, 2020

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
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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."