OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT
Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing (WES) is a routine tool for diagnostic confirmation of genetic diseases, and it is usually performed to confirm the clinical diagnosis in ADP...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Book |
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BMC,
2023-11-01T00:00:00Z.
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