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Updated: Jun 19, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

NOS1APは,長QT症候群の遺伝子改変剤である

Lia Crotti1, Maria Cristina Monti, Roberto Insolia

  • 1Department of Lung, Blood, and Heart, University of Pavia, Pavia, Italy.

Circulation
|October 14, 2009
PubMed
まとめ

NOS1AP遺伝子の一般的な変異は,先天性長QT症候群 (LQTS) 患者における突然心臓死リスクに影響を与える. この発見は,心律の障害であるLQTSのリスクの階層化に役立ちます.

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