Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.K1520M
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CREBBP

NM_004380.3:p.K1520M

Associated Papers

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

Targeted next generation sequencing reveals high mutation frequency of CREBBP, BCL2 and KMT2D in high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.

Evrard SM et al.

Haematologica, 2019

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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."