Article

Calibrated Functional Data Decreases Clinical Uncertainty for<i>KCNH2</i>-related Long QT Syndrome

2025-02-08

Abstract excerpt

Rare missense variants are often classified as variants of uncertain significance (VUS) due to insufficient evidence for classification. These ambiguous findings create anxiety and frequently lead to inappropriate workup, colloquially referred to as the ‘diagnostic odyssey’. Well-validated high-throughput experimental data have the potential to significantly reduce the number of VUS identified by clinical genetic...

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Literature Corpus work: 204e755c-074e-5c06-b6be-7d739d67a463
DOI: 10.1101/2025.02.05.25321617

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