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Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations

Cerebral Cavernous Malformations (CCMs) are vascular malformations of the central nervous system which can lead to moderate to severe neurological phenotypes in patients. A majority of CCM lesions are driven by a cancer-like three-hit mutational mechanism, including a somatic, activating mutation in...

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Detalles Bibliográficos
Autores principales: Ressler, Andrew K., Snellings, Daniel A., Girard, Romuald, Gallione, Carol J., Lightle, Rhonda, Allen, Andrew S., Awad, Issam A., Marchuk, Douglas A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10622526/
https://www.ncbi.nlm.nih.gov/pubmed/37919320
http://dx.doi.org/10.1038/s41467-023-42908-w