Article

Developing a phenotype risk score for <i>TTR</i> V142I to capture undiagnosed variant transthyretin amyloidosis in health systems

2026-01-06

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Phenotype Risk Scores (PheRS) leverage electronic health record (EHR) data to identify individuals at risk for Mendelian disorders, but their performance remains untested for diseases with common and/or non-specific features such as variant transthyretin amyloidosis (ATTRv), often presenting with heart failure (HF), atrial fibrillation, polyneuropathy, and other prevalent di...

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Literature Corpus work: efe18a3c-aebe-5114-b71c-777947c183ec
DOI: 10.64898/2026.01.05.26343489

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