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Updated: Aug 25, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective

Anne Hebert1, Annet Simons1, Janneke H M Schuurs-Hoeijmakers1

  • 1Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.

Elife
|October 17, 2022
PubMed
Abstract

Keywords:
de novo variantshumaninborn errors of immunitymedicineprimary immunodeficienciestrio-based whole exome sequencing

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