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Updated: Sep 20, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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A Novel NKX2-5 Variant in a Child with Left Ventricular Noncompaction, Atrial Septal Defect, Atrioventricular

Yuya Yamada1, Kazushi Yasuda1, Yukiko Hata2

  • 1Department of Cardiology, Aichi Children's Health and Medical Center, Obu 474-8710, Japan.

Journal of Clinical Medicine
|June 10, 2022
PubMed

Keywords:
atrial septal defectconduction disorderleft ventricular noncompactionsyncope

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