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Updated: May 13, 2025

FISH for Pre-implantation Genetic Diagnosis
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Balanced Translocation Disrupting JAG1 Identified by Optical Genomic Mapping in Suspected Alagille Syndrome

Yi-Qiong Zhang1, Peng-Fei Gao2, Jing-Min Yang2,3,4

  • 1The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.

Human Mutation
|April 14, 2025
PubMed
Abstract

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