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Article

Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

Mayo Clinic proceedings - 1 Jun 2014

Bos J Martijn, Will Melissa L, Gersh Bernard J, Kruisselbrink Teresa M, Ommen Steve R, Ackerman Michael J

Abstract excerpt

OBJECTIVES: To determine the prevalence and spectrum of mutations and genotype-phenotype relationships in the largest hypertrophic cardiomyopathy (HCM) cohort to date and to provide an easy, clinically applicable phenotype-derived score that provides a pretest probability for a positive HCM genetic test result. PATIENTS AND METHODS: Between April 1, 1997, and February 1, 2007, 1053 unrelated patients with the...

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Identifiers

PMID: 24793961
DOI: 10.1016/j.mayocp.2014.01.025
PMCID: PMC4234122

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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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