In-frame varianty genu TP53 nalezené v leukemických buňkách dospělých pacientů vedou ke ztrátě proteinu: mezinárodní studie
| Title in English | In-frame Variants of the TP53 Gene Found in Leukemic Cells of Adult Patients Lead to Protein Loss: An International Study |
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| Authors | |
| Year of publication | 2024 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
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| Description | The predictive significance of TP53 mutations in leukemia has led to the inclusion of sequencing this gene in international guidelines, thereby increasing the demands for reliable detection and interpretation of variants. Most somatic TP53 variants can be interpreted based on large functional studies. However, there is a limited amount of evidence regarding the functional impact of in-frame variants—deletions and insertions that do not disrupt the reading frame. |
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