Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.S1179G
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CREBBP

NM_004380.3:p.S1179G

Associated Papers

Whole exome sequencing of primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorders.

Soderquist CR et al.

Hematological Oncology, 2023

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

[CREBBP gene mutation in two boys with Rubinstein-Taybi syndrome].

Zhang J et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

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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."