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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Genome Med
Hauptverfasser: Perrone, Federica, Cacace, Rita, van der Zee, Julie, Van Broeckhoven, Christine
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2021
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8048219/
https://ncbi.nlm.nih.gov/pubmed/33853652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-021-00878-y
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