Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.R1462*
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EP300

NM_001429.4:p.R1462*

Associated Papers

Molecular genetic analysis of Rubinstein-Taybi syndrome in Russian patients.

Ismagilova OR et al.

Frontiers in Genetics, 2025

39958159 (PubMed )
Supplement: DataSheet1.pdf

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

Genetic and immunohistochemical profiling of NK/T-cell lymphomas reveals prognostically relevant BCOR-MYC association.

Oishi N et al.

Blood Advances, 2023

35882439 (PubMed )
Supplement: BLOODA_ADV-2022-007541-mmc2.xlsx › Sheet1

Undiagnosed disease program in South Africa: Results from first 100 exomes.

Moosa S et al.

American Journal of Medical Genetics. Part A, 2022

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.

Margolskee E et al.

Oncotarget, 2016

27203213 (PubMed )
Supplement: oncotarget-07-37636-s002.xlsx › Table_S3
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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."