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Updated: Mar 27, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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電子医療記録に記録された表型と不律に関連した遺伝的変異の関連

Sara L Van Driest1, Quinn S Wells1, Sarah Stallings1

  • 1Vanderbilt University Medical Center, Nashville, Tennessee.

JAMA
|January 10, 2016
PubMed
まとめ

不律性遺伝子SCN5AとKCNH2の希少な変異は11%の患者で発見されました. しかし,これらの遺伝的変異は,この研究集団における心臓発作現象と明確な関連を示さなかった.

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