Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.L1454H
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CREBBP

NM_004380.3:p.L1454H

Associated Papers

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

Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family.

Lin S et al.

Frontiers in Genetics, 2021

Toward Personalized Lymphoma Immunotherapy: Identification of Common Driver Mutations Recognized by Patient CD8+ T Cells.

Nielsen JS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Germline mosaicism in Rubinstein-Taybi syndrome.

Tajir M et al.

Gene, 2013

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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."