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Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

Knowledge of the molecular etiology of neurodegenerative brain diseases (NBD) has substantially increased over the past three decades. Early genetic studies of NBD families identified rare and highly penetrant deleterious mutations in causal genes that segregate with disease. Large genome-wide assoc...

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Detalles Bibliográficos
Autores principales: Perrone, Federica, Cacace, Rita, van der Zee, Julie, Van Broeckhoven, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048219/
https://www.ncbi.nlm.nih.gov/pubmed/33853652
http://dx.doi.org/10.1186/s13073-021-00878-y