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Updated: Jul 26, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes

Emma Price1, Liron M Fedida1, Elena M Pugacheva1

  • 1Molecular Pathology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

Frontiers in Molecular Neuroscience
|June 16, 2023
PubMed
Abstract

Keywords:
CTCFgenotype-phenotypemutationneurodevelopmental disordersnext-generation sequencing (NGS)variant

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