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Article

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.

Genome medicine - 14 Apr 2021

Perrone Federica, Cacace Rita, van der Zee Julie, Van Broeckhoven Christine

Abstract excerpt

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 association studies uncovered common genetic variants that influenced disease risk. Major developments in next-generation...

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Identifiers

PMID: 33853652
DOI: 10.1186/s13073-021-00878-y
PMCID: PMC8048219

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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