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Updated: Nov 15, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta

Youn Jung Kim1, Yejin Lee2, Hong Zhang3

  • 1Department of Molecular Genetics & DRI, School of Dentistry, Seoul National University, Seoul 03080, Korea.

Genes
|March 3, 2021
PubMed

Keywords:
SP6amelogenesis imperfectade novo mutationhereditary enamel defectswhole exome sequencing

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