Trio-based whole-exome sequencing and Minigene assay identify a novel MYH11 splice site variant (c.2997+5G>C) in recurrent fetal megacystis

Research Square 2026 Preprint Open access

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Authors: Wenwen Li, Yeqing Qian, Pan Gao, Lihong Fan, Xinli Zhang, Xuekui Pan, Guosong Shen, Qiongshan Li, Xueping Shen

DOI: 10.21203/rs.3.rs-8478795/v1

Cited by: 0

References: 23

Fields of Study & Subjects

Genomics and Rare Diseases Cardiomyopathy and Myosin Studies Connective tissue disorders research

References 23