Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis
Abstract Background In the past decade, SETBP1 has attracted a lot of interest on that the same gene with different type or level (germline or somatic) of variants could provoke different pathologic consequences such as Schinzel-Giedon syndrome, SETBP1 Haploinsufficiency Disorder (SETBP1-HD) and mye...
| Главные авторы: | , , , , , , , , |
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| Формат: | Статья |
| Язык: | English |
| Опубликовано: |
BMC
2023-05-01
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| Серии: | Orphanet Journal of Rare Diseases |
| Предметы: | |
| Online-ссылка: | https://doi.org/10.1186/s13023-023-02705-6 |