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Updated: Oct 10, 2025

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

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Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population

Chul-Hoo Kang1, Young Mee Kim1, Yang-Ji Kim1

  • 1Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.

Neurology. Genetics
|December 9, 2021
PubMed
Abstract

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