Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.Q483*
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EP300

NM_001429.4:p.Q483*

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

Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.

Hirsch P et al.

Blood Cancer Journal, 2024

38871702 (PubMed )
Supplement: 41408_2024_1078_MOESM1_ESM.pdf

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Levy MA et al.

Hgg Advances, 2022

35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
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