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Updated: Jun 26, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Dandy-Walker malformation in an individual with ABL1 variant

Jenny P Garzon1,2, Andrea C Pardo2,3, Carolyn R Raski1,2

  • 1Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

American Journal of Medical Genetics. Part A
|May 18, 2024
PubMed

Keywords:
ABL1Dandy–Walker malformationdevelopmental defectsexome sequencingprenatal diagnosis

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