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Article

Genetic Misdiagnoses and the Potential for Health Disparities.

The New England journal of medicine - 18 Aug 2016

Manrai Arjun K, Funke Birgit H, Rehm Heidi L, Olesen Morten S, Maron Bradley A, Szolovits Peter, Margulies David M, Loscalzo Joseph, Kohane Isaac S

Abstract excerpt

BACKGROUND: For more than a decade, risk stratification for hypertrophic cardiomyopathy has been enhanced by targeted genetic testing. Using sequencing results, clinicians routinely assess the risk of hypertrophic cardiomyopathy in a patient's relatives and diagnose the condition in patients who have ambiguous clinical presentations. However, the benefits of genetic testing come with the risk that variants may be...

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Identifiers

PMID: 27532831
DOI: 10.1056/NEJMsa1507092
PMCID: PMC5292722

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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