Article

Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms

2024-04-19

Abstract excerpt

The biological mechanisms giving rise to the extreme symptoms exhibited by rare disease patients are complex, heterogenous, and difficult to discern. Understanding these mechanisms is critical for developing treatments that address the underlying causes of diseases rather than merely the presenting symptoms. Moreover, the same dysfunctional biological mechanisms implicated in rare recessive diseases may also lead...

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Identifiers and source

Literature Corpus work: 1c283945-98ca-5834-8206-40ce1947062b
DOI: 10.1101/2024.04.18.24305861

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