Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.T1078M
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SETBP1

NM_015559.3:p.T1078M

Associated Papers

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Wong MMK et al.

Nature Communications, 2025

41073373 (PubMed )
Supplement: 41467_2025_64074_MOESM6_ESM.xlsx › Sheet1

Correction to "The Impact of SETBP1 Mutations in Neurological Diseases and Cancer".

Unknown Author

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2025

The impact of SETBP1 mutations in neurological diseases and cancer.

Kohyanagi N et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2023

Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.

Li P et al.

Frontiers in Oncology, 2022

36439454 (PubMed )
Supplement: DataSheet_2.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."