Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay

With the development of high-throughput sequencing, the genetic etiology of many diseases has been revealed. However, this has also led to the categorization of many variants as variants of uncertain significance (VUSs), presenting a major challenge in genetic counseling. A couple with a history of...

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Bibliographic Details
Main Authors: Huiling Xu, Jiajie Pu, Zhengzhong Wu, Shuhan Guo, Xuemei Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-10-01
Series:Frontiers in Genetics
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Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1456293/full
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