Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism
ABSTRACT: Purpose: Disorders of somatic mosaicism (DoSM) are a heterogeneous group of conditions caused by postzygotic variants in genes within the PI3K/AKT/mTOR and RAS/MAPK signaling pathway. The co-existence of 2 activating variants in this disease group is extremely rare. Methods: A deep sequen...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2023-01-01
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| coleção: | Genetics in Medicine Open |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2949774423008166 |
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