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Updated: May 24, 2025

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

Published on: January 16, 2019

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ATP1A3变体,可变透的短QT间隔,以及致命的心室失律症

Mary E Moya-Mendez1, Minu-Tshyeto Bidzimou1, Padmapriya Muralidharan1

  • 1Department of Pediatrics, Division of Pediatric Cardiology, Duke University School of Medicine, Durham, North Carolina.

JAMA pediatrics
|March 3, 2025
PubMed
概括

与ATP1A3变体相关的儿童期交替性半 (AHC) 可以导致短的QT间隔. D801N变种与心室节律失常有关,可能解释AHC患者突然无法解释的死亡.

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