Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole-exome sequencing
Autosomal dominant polycystic kidney disease (ADPKD) is the most common type of inherited cystic kidney disease. The feasibility of whole-exome sequencing (WES) to obtain molecular diagnosis of ADPKD is still in question as previous studies showed conflicting results. Utilizing WES on a patient with...
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Published: |
Spandidos Publ Ltd
2022
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| Subjects: | |
| Online Access: | http://eprints.um.edu.my/40709/ |
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