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

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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Main Authors: Karla Lucia F. Alvarez, Jorge Alberto Aguilar-Pineda, Michelle M. Ortiz-Manrique, Marluve F. Paredes-Calderon, Bryan C. Cardenas-Quispe, Karin Jannet Vera-Lopez, Luis D. Goyzueta-Mamani, Miguel Angel Chavez-Fumagalli, Gonzalo Davila-Del-Carpio, Antero Peralta-Mestas, Patricia L. Musolino, Christian Lacks Lino Cardenas
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Molecular Neuroscience
Subjects:
unbiased gene discovery
whole genome sequencing
family-specific genetic factor
Amerindian ancestral background
Alzheimer’s disease
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2023.1104585/full

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https://www.frontiersin.org/articles/10.3389/fnmol.2023.1104585/full

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