Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.R75*
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CREBBP

NM_004380.3:p.R75*

Associated Papers

The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.

Prada E et al.

Genes, 2025

39858651 (PubMed )
Supplement: genes-16-00104-s001.zip › genes-3365858-supplementary.pdf

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM5_ESM.xlsx › Sheet_1

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

Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Fangazio M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34050029 (PubMed )
Supplement: pnas.2104504118.sd02.xlsx › Table_S2

Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.

Charo LM et al.

Molecular Oncology, 2021

32881280 (PubMed )
Supplement: MOL2-15-67-s001.docx

Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Bouska A et al.

Leukemia, 2017

27389057 (PubMed )
Supplement: NIHMS790817-supplement-6.xlsx › Sheet1

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

Inactivating mutations of acetyltransferase genes in B-cell lymphoma.

Pasqualucci L et al.

Nature, 2011

21390126 (PubMed )
Supplement: NIHMS256120-supplement-Supplementary_Figures_and_Tables.pdf
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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."