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Updated: Nov 26, 2025

07:15
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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KCNQ1 gene mutation and epilepsy in patient with long QT syndrome
Macarena García Gozalo1, Ignacio Bermejo Arnedo1, Paula de Vera McMullan1
1Servicio de Pediatría, Hospital Universitario Infanta Cristina , Parla (Madrid), España.
Abstract
No abstract available in PubMed .
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