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Updated: Jul 16, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Novel variants identified in five Chinese families with Joubert Syndrome: a case report

Liwei Fang1, Lulu Wang1, Li Yang1

  • 1Pediatric Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, Hefei, 230000, China.

BMC Medical Genomics
|September 22, 2023
PubMed
Abstract

Keywords:
CC2D2ACPLANE1INPP5EJoubert syndromeNPHP1TCTN2

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