Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Q2045*
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CREBBP

NM_004380.3:p.Q2045*

Associated Papers

Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience.

Shanahan RM et al.

Pediatric Neurosurgery, 2024

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

Mutational patterns in chemotherapy resistant muscle-invasive bladder cancer.

Liu D et al.

Nature Communications, 2017

29259186 (PubMed )
Supplement: 41467_2017_2320_MOESM1_ESM.pdf

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

Rubinstein-Taybi syndrome: clinical and molecular overview.

Roelfsema JH et al.

Expert Reviews in Molecular Medicine, 2007

Aberrant forms of histone acetyltransferases in human disease.

Van Beekum O et al.

Sub-cellular Biochemistry, 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."