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Updated: Sep 14, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A

Sikandar G Khan1, Wenelia Baghoomian1, Christiane Kuschal-Tauzon1

  • 1Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

The Journal of Investigative Dermatology
|July 19, 2025
PubMed

Keywords:
DNA repair disordersGenodermatosesHair biologyHuman geneticsRNA biology

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