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Updated: Jul 27, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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A novel HECW2 variant in an infant with congenital long QT syndrome

Rina Imanishi1, Kouichi Nakau1, Sorachi Shimada1

  • 1Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.

Human Genome Variation
|June 6, 2023
PubMed

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