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Updated: May 24, 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

A left ventricular noncompaction in a patient with long QT syndrome caused by a KCNQ1 mutation: a case report

Kentaro Nakashima1, Isao Kusakawa, Tsuyoshi Yamamoto

  • 1Department of Pediatrics, St. Luke's International Hospital, 9-1 Akashi-cho, Chuou-ku, Tokyo, Japan. bluesky199067@yahoo.co.jp

Heart and Vessels
|February 23, 2012
PubMed

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