Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.L1507P
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CREBBP

NM_004380.3:p.L1507P

Associated Papers

Missense Mutations in the KAT Domain of CREBBP Gene in Patients with Follicular Lymphoma: Implications for Differential Diagnosis and Prognosis.

Smolianinova A et al.

International Journal of Molecular Sciences, 2025

40725159 (PubMed )
Supplement: ijms-26-06913-s001.zip › ijms-3722294-supplementary.xlsx › 14-18_

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

Tracing Founder Mutations in Circulating and Tissue-Resident Follicular Lymphoma Precursors.

Schroers-Martin JG et al.

Cancer Discovery, 2023

Analysis of Genetic Alterations in Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma With Whole-Exome Sequencing.

Zhao A et al.

Frontiers in Oncology, 2022

35359413 (PubMed )
Supplement: Table_2.xlsx › DataS1

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

Spena S et al.

Clinical Genetics, 2015

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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."