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Updated: May 1, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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心筋疾患の臨床評価において遺伝学の利用

Daniel P Judge1

  • 1Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA. djudge@jhmi.edu

JAMA
|December 10, 2009
PubMed
まとめ

遺伝検査は,遺伝性心筋疾患の診断と患者の治療改善に不可欠です. 危険にさらされている家族の早期スクリーニングは,家族性心疾患の早期治療を保証します.

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