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Updated: Jul 6, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Diagnostic problems with long QT syndrome in 5-year-old boy]
Anna Kostorz1, Barbara Szwed-Białozyt, Beata Wesołek-Kamińska
1Katedry i Kliniki Pediatrii i Neurologii Wieku Rozwojowego Slaskiego Uniwersytetu Medycznego w Katowicach.
Abstract:
The authors described the case of 5-year-old boy, in whom a proper diagnosis was established after 19 months. In differential diagnosis, epileptic, tetanic and conversion seizures were taken into consideration.
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