Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

Abstract Background The mechanistic pathways that give rise to the extreme symptoms exhibited by rare disease patients are complex, heterogeneous, and difficult to discern. Understanding these mechanisms is critical for developing treatments that address the underlying causes of diseases rather than...

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Bibliographic Details
Main Authors: Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren
Format: Article
Language:English
Published: BMC 2025-01-01
Series:BioData Mining
Subjects:
Seizures
Compound heterozygous
Variant carriers
Recessive conditions
Rare diseases
Online Access:https://doi.org/10.1186/s13040-024-00418-5
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