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Updated: Feb 8, 2026

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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全エクソーム分子解剖における変異解釈の重要性:集団ベースのケースシリーズ

Garrett W Shanks1, David J Tester1, Jaeger P Ackerman1

  • 1Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (G.W.S., D.J.T., J.P.A., M.J.A.).

Circulation
|June 20, 2018
PubMed
まとめ

完全エクソムの分子解剖は,若者の突然の原因不明の死亡 (SUDY) の遺伝的変異を効果的に検出します. 精密な変異分析は正確な診断と家族のケアに不可欠です.

キーワード:
心筋病チャネル病変遺伝子について突然の死

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