Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family

Evidence suggests that there may be racial differences in risk factors associated with the development of Alzheimer’s disease and related dementia (ADRD). We used whole-genome sequencing analysis and identified a novel combination of three pathogenic variants in the heterozygous state (UNC93A: rs773...

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Detalles Bibliográficos
Autores principales: Alvarez, Karla Lucia F., Aguilar-Pineda, Jorge Alberto, Ortiz-Manrique, Michelle M., Paredes-Calderon, Marluve F., Cardenas-Quispe, Bryan C., Vera-Lopez, Karin Jannet, Goyzueta-Mamani, Luis D., Chavez-Fumagalli, Miguel Angel, Davila-Del-Carpio, Gonzalo, Peralta-Mestas, Antero, Musolino, Patricia L., Lino Cardenas, Christian Lacks
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9978490/
https://www.ncbi.nlm.nih.gov/pubmed/36873109
http://dx.doi.org/10.3389/fnmol.2023.1104585

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