Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Q2199L
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CREBBP

NM_004380.3:p.Q2199L

Associated Papers

Plasma-only circulating tumor DNA analysis detects minimal residual disease and predicts early relapse in hepatocellular carcinoma patients undergoing curative resection.

Xu Y et al.

Frontiers in Oncology, 2023

Single-Nucleotide Variations, Insertions/Deletions and Copy Number Variations in Myelodysplastic Syndrome during Disease Progression Revealed by a Single-Cell DNA Sequencing Platform.

Lee P et al.

International Journal of Molecular Sciences, 2022

35563039 (PubMed )
Supplement: ijms-23-04647-s001.zip › Supplemental_file_S1.xlsx › Supp_Table_S1

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 289.143
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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."