Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole‑exome sequencing
Affiliations: Allergy and Immunology Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam, Selangor 40170, Malaysia, Institute of Biological Sciences, Faculty of Science, Universiti Malaya, Kuala Lumpur 50603, Malaysia, Nephrology Department, Kuala Lumpur Hospital, Ministry of Health, Kuala Lumpur 50586, Malaysia
- Published online on: October 24, 2022 https://doi.org/10.3892/mmr.2022.12882
- Article Number: 365
Copyright: © Koay et al. This is an open access article distributed under the terms of Creative Commons Attribution License.