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Journal: Diagnostics, 2020
Volume: 10
Number: 286

Article: Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound
Authors: by Ting-Yu Chang, I-Fang Chung, Wan-Ju Wu, Shun-Ping Chang, Wen-Hsiang Lin, Norman A. Ginsberg, Gwo-Chin Ma and Ming Chen
Link: https://www.mdpi.com/2075-4418/10/5/286

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