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Article

A Validation Study of the Mayo Clinic Phenotype-Based Genetic Test Prediction Score for Japanese Patients With Hypertrophic Cardiomyopathy.

Circulation journal : official journal of the Japanese Circulation Society - 23 Apr 2021

Moriki Toshihiro, Kubo Toru, Sugiura Kenta, Ochi Yuri, Baba Yuichi, Hirota Takayoshi, Yamasaki Naohito, Kimura Akinori, Doi Yoshinori L, Kitaoka Hiroaki

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal-dominant disorder mainly caused by mutations in sarcomere genes. Recently, a phenotype-based genetic test prediction score for patients with HCM was introduced by Mayo Clinic. The genotype score was derived on the basis of the predictive effect of 6 clinical markers, and the total score was shown to be correlated with...

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PMID: 33487615
DOI: 10.1253/circj.CJ-20-0826

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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