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Updated: May 5, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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生まれながらの長QT症候群における診断ミス

Nathaniel W Taggart1, Carla M Haglund, David J Tester

  • 1Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

Circulation
|May 16, 2007
PubMed
まとめ

ロングQT症候群 (LQTS) と診断された多くの患者は過剰診断されています. サブスペシャリティクリニックでは,LQTSの確率が27%しかなかったことが判明し,この心臓チャネル病における診断上の課題を強調しています.

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