Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.T1447I
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CREBBP

NM_004380.3:p.T1447I

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

Benign and malignant tumors in Rubinstein-Taybi syndrome.

Boot MV et al.

American Journal of Medical Genetics. Part A, 2018

Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

Yoo HJ et al.

International Journal of Molecular Sciences, 2015

25768348 (PubMed )
Supplement: ijms-16-05697-s001.pdf

Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.

Sharma N et al.

Journal of Biosciences, 2010

Rubinstein-Taybi syndrome: clinical and molecular overview.

Roelfsema JH et al.

Expert Reviews in Molecular Medicine, 2007

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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."